Algorithms in
2nd, revised edition

Ze‘ev Hochberg, Haifa

53 graphs, 7 figures and 3 tables, 2007

Contributors Puberty Intersex

1 Introduction 14 Precocious breast development 36 Micropenis at age 1 year to puberty
Z. Hochberg in a girl M. Ritzén; R.L. Hintz
J.-P. Bourguignon; R.L. Rosenfield
38 Micropenis in a newborn
16 Precocious genital development M. Ritzén; R.L. Hintz
Growth in a boy 40 Hypospadias/virilization
J.-P. Bourguignon; R.L. Rosenfield M. Ritzén; R.L. Hintz
2 Failure to thrive
18 Precocious pubarche 42 Cryptorchidism
R.L. Hintz; Z. Hochberg
J.-P. Bourguignon; R.L. Rosenfield A.D. Rogol; Z. Hochberg
4 Short stature
20 Gynecomastia 44 Turner syndrome
R.L. Hintz; M. Ritzén
N. Zuckerman-Levin; Z. Hochberg; R.L. Hintz; Z. Hochberg
6 Growth hormone treatment R.L. Rosenfield
R.L. Hintz; J.-P. Bourguignon
22 Delayed or absent testicular
8 Tall stature development Adrenal
N. Zuckerman-Levin; Z. Hochberg; M. Ritzén J.-P. Bourguignon; R.L. Rosenfield

10 Overweight and obesity/ 24 Delayed or absent breast 46 Hypertension
Infantile obesity development F. Riepe; W.G. Sippell; Z. Hochberg
Z. Hochberg; A.D. Rogol J.-P. Bourguignon; R.L. Rosenfield
48 Cushing syndrome
12 Brain irradiation 26 Primary amenorrhea and A.D. Rogol; Z. Hochberg
A.D. Rogol; D.B. Dunger abnormal genital anatomy 50 Congenital adrenal hyperplasia
R.L. Rosenfield
(CAH) in the newborn period
28 Secondary amenorrhea or M. Ritzén; R.L. Hintz
oligomenorrhea 52 Congenital adrenal hyperplasia
R.L. Rosenfield
(CAH) presenting after the newborn
30 Anovulatory disorders period
R.L. Rosenfield; J.-P. Bourguignon M. Ritzén; R.L. Hintz

32 Hirsutism
R.L. Rosenfield; F. Riepe; W.G. Sippell

34 Hyperandrogenemia
R.L. Rosenfield; F. Riepe; W.G. Sippell

Jr. Sippell.A. O. Péter M. F. D. Foley.. Dunger.K. F.A.A.B.G. Jr. Hochberg T. Menon. Z. Menon. Péter 104 Maturity-onset diabetes of youth 90 Hypothyroxinemia Calcium metabolism (MODY) T. Menon. R. Sperling D. Dunger. Sperling W. 70 Hypocalcemia M. Z.P. R. Z. O.P.A..P. Hochberg. Z. Escobar.. Dunger. Menon. 98 Prediabetes and prediction of 60 Hypernatremia 82 Neonatal hyperthyroidism diabetes W. Z. Dunger. Tiosano. Sperling W.P.G. Z. Sippell. Hochberg 108 Index of Signs and Symptoms 74 Hypomagnesemia 112 Abbreviations A. Foley. Jr.B. Hochberg F. Hochberg F.D. Péter. Menon.B. F. W. Péter 102 Type 1 diabetes mellitus 66 Hypokalemia D. Jr. Dunger. Foley. Escobar. R. T. Sippell.B. R.D. Riepe. O.B.G. F. Péter 100 T2DM 64 Hyperkalemia 86 Thyroid nodules in children and D. Sippell. Foley.B. Hochberg adolescents T. R. Péter D. Sperling F. Riepe. Jr.G. Escobar. Dunger 56 Hyperhydration 78 Juvenile hypothyroidism W. T. Z. Tiosano.B. F. Jr.P. 92 Hyperthyroxinemia D. Zuckerman-Levin. Menon. Escobar. Jr. Hochberg T. O.Water and electrolytes Thyroid Carbohydrates 54 Polyuria 76 Congenital hypothyroidism 94 Hypoglycemia N. O. Rogol T. R. Sippell. 58 Dehydration 80 Hyperthyroidism M. Menon. Escobar. O.K. Tiosano. Jr. 62 Hyponatremia 84 Goiter M. Péter M. W.A. 96 Hyperglycemia D. Z..K. Sperling. Hochberg 106 Diabetic ketoacidosis D. Péter. M. Péter. Rogol. Foley.K.. R. Foley. Foley. Sippell.K.G. F.. Jr.P. D.K. Sperling.A. O. Escobar. Hochberg 88 Thyroid carcinoma M. F.P.P. Z.G. Escobar.A. Hochberg . Sperling T. Dunger 68 Hypercalcemia F. T. A. Foley. Z. Z.K. Foley. Hochberg 72 Rickets D.P.

or approval of the copying. ed. reproduced or utilized in any form or by any means. USA Budapest. Ze’ev Hochberg. Menon. However. All rights reserved. products or services advertised or of their effectiveness. including photocopying. Adolescent. 52 graphs. Endocrine System Diseases. PhD. Germany Oscar Escobar. MD Felix Riepe. MD. Addenbrooke’s Hospital Children’s Hospital Universitäts-Kinderklinik Cambridge. paper) apy and drug reactions. or by any information storage and retrieval system. Hochberg. MD Martin Ritzén. Pennsylvania. PhD Nehama Zuckerman-Levin. spiral bound. MD Children’s Hospital Buda Children’s Hospital and Policlinic Children’s Hospital Pittsburgh. Rogol. MD. in. MD University of Pittsburgh Universitäts-Kinderklinik Meyer Children’s Hospital Pittsburgh. Child. Contributors Jean-Pierre Bourguignon. ments in the book is not a warranty. 1st edition: Practical Algorithms in Pediatric Endocrinology trees. MD. 1 tab. electronic or mechanical. MD. options and data contained in this publi. MD Ferenc Péter.. MD. ISBN-13: 978-3-8055-8220-9 (softcover : alk. The statements. MD Wolfgang G. Germany Haifa. structions or products referred to in the content or advertisements. Jr. 4 fig. paper) safety. PhD Ze’ev Hochberg. and the constant flow of information relating to drug ther. Foley. quality or permission in writing from the publisher. Dunger. Pennsylvania. Belgium Technion – Israel Institute of Technology Children’s Hospital Haifa. the reader is urged to check the package insert ISBN 978–3–8055–8220–9 for each drug for any change in indications and dosage and for added warnings and precautions. P. endorsement. Printed in Switzerland on acid-free paper by Reinhardt Druck. . – 2nd. USA Kiel. USA Thomas P. Drug Dosage. Pennsylvania. Box. UK Pittsburgh. editor. The authors and the publisher have exerted every effort ISBN 3–8055–6693–X 6. Basel ISBN 978–3–8055–8220–9 (spiral bound: alk. WS 330 P8949 2007] to ensure that drug selection and dosage set forth in this text are in RJ418. MD CHU Sart Tilman Rambam Medical Center The University of Chicago Liège. Decision Trees. California. 2. changes in government (Switzerland) 2007012334 regulations. Israel Chicago. methods. No part of this publication may be translated into Practical algorithms in pediatric endocrinology / cation are solely those of the individual authors and contributors and other languages. This is particularly important when the rec- ommended agent is a new and/or infrequently employed drug. PhD University of Virginia Health Science Center Charlottesville. DSc Mark A. CH–4009 Basel 618.. IV + 110 p. cm. Editor: Z. Rosenfield. USA Stockholm. Israel Raymond L. Haifa I. without Includes bibliographical references and index. Israel Alan D. The appearance of advertise. in view of ongoing research.. Sperling. USA Kiel.O. 1999 3. Illinois. Pediatric endocrinology – Diagnosis –Decision making. . PhD Robert L. not of the publisher and the editor(s). Karger AG. Sippell. Hungary Pittsburgh. 4. Endocrine System Diseases – diagnosis. Hochberg.92’4 – dc22 lication. © Copyright 2007 by S. MD University of Cambridge. Infant. MD Dov Tiosano. [DNLM: 1. 5.. MD Stanford University Medical Center Karolinska Hospital Rambam Medical Center Stanford.P69 2007 accord with current recommendations and practice at the time of pub. Z. MD Department of Paediatrics Ram K. Virginia. Decision injury to persons or property resulting from any ideas. Pennsylvania. Hintz. The publisher and the editor(s) disclaim responsibility for any 1. micro- p. USA David B. Sweden Haifa. 2. recording. USA Library of Congress Cataloging-in-Publication Data Disclaimer. rev.

who plex problems. In addition. His ‘algorismus’ indi- algorithm must be used in the context of the individual meant as a pragmatic text to be used at the patient’s cated a step-by-step logical approach to mathematical findings of each patient under examination and in bedside. The algorithms younger contributors who have grown to be among the by disease or by diagnoses. signs problem-solving. with the given problem. or confounded step-by-step logical problem-solving for each patient Ze’ev Hochberg. The clinician and laboratory abnormalities as they present to us in practitioner in that same spirit. Introduction to 1st edition clinical problem. can be excluded by a single or a group of signs. Yet. . I invite comments to correct rithm would provide a logical. then by simple laboratory tests effective fashion. Algorithms are from which he is expected to proceed to diagnosis and proach. basic and clinical endocrinology has changed not only or pediatricians who are not exposed on a daily basis our understanding. as often a whole group of diagnoses which may require specialized proficiencies. Decision trees prepared in advance April 1999. to more sophisticated laboratory means. Each Practical Algorithms in Pediatric Endocrinology is also gave his name to ‘algebra’. PhD patients and parents. It would also train a young our clinical practices to a level unimaginable only a practitioner in medical reasoning. a prepared algo- Endocrinology was compiled in 1998 and published in readers and. experienced each of the 50 algorithms. In the 8 years between its publication and this any mistakes which may have occurred or to make any approach prepared by a specialist who is experienced second edition. and only finally. advances in diag- have the disadvantage of unacquaintedness with the nosis and management can render current approaches individual patient. trainees in pediatric endocrinology as they presume April 2007. and this book presents one such way The same contributors responded willingly to revise for each problem.000 copies. physical examination. The colossal pace of discovery in both fore. there- I hope you will find this book helpful in managing the decade ago. concise. cian is encountered by a patient’s complaint. We paid special attention to simple passages. MD. they be viewed dogmatically as the one and only ap- The basic outline remains unchanged. among the authors of this book. as before. The enormous success and sell-out rithms provide a direct approach to breaking down long common to any clinical setting. tribute to the 12 contributors to the first edition in that it has become a leading bedside source for general prac. Certainly. Algo. useful for clinicians caring for children with endocrine manageable lists. we have additional Textbooks of medicine are oriented by body systems. efficient and cost- is through differential diagnosis by exclusion. It would also aid Ze’ev Hochberg. more some cases. to render individually. cost-effective 1999. This book is. prepared by skilled. there will always be exceptions. The experienced practitioner applies presentation may be atypical enough. pediatricians and pediatric endocrine fellows. molecular endocrinology has changed improvements to the diagnostic algorithms we offer. tests or imaging. Haifa our approaches invalid. practical tools to help us address diagnostic and to plan management. by a symp. for the physician who is less obsolete. Haifa familiarity with clinical problem-solving to make The first edition has sold over 3. It classifies common clinical symptoms. It is presented hereby to the medical conjunction with the published literature. Naturally. disorders. specialists in pediatric endocrinology. ninth century Arabic mathematician Algawrismi. Yet. in of the first edition confirmed that this approach was list tables of differential diagnosis into smaller. 1 must always be aware that any individual patient’s daily practice. Introduction The first edition of Practical Algorithms in Pediatric Several chapters include suggestions made by our experienced with a given problem. were prepared through discussion and deliberation new leadership in pediatric endocrinology worldwide. MD. aimed at an audience of general practitioners children under your care. there is more than one way to approach a titioners. It is a rational choices in approaching a clinical dilemma. By no means should tom. PhD by concomitant disorders or complications. but also our daily engagement with to pediatric endocrine problems. The traditional medical approach rejecting groups of diagnoses first by history and therapeutic problems in a logical. the practicing physi. by a physical sign or by a laboratory abnormality. blood The term ‘algorithm’ is derived from the name of the As with any approach that attempts to simplify com.

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GHBP and basal GH are valuable screening tests for inadequate GH secre. 6 – A child with GH secretion not consistent 7 strength and metabolism. Bourguignon JP. or in male diagnosed and adequately treated before testing for Clinical Guidelines Subcommittee: Stephens PA: with anomalies GH deficiency is carried out. ever. such as glucocorticoids treatment instituted.151:67–72. dren uses many standardized protocols. height. Bourguignon JP. Eur J Endocrinol 2004. Gene mutations (Pit-1. Heinrichs C. ity <–1 SDS) and/or a history of CNS lesions or irradia.L. How. Evidence for systemic disease footnote 5) then the diagnosis of GH deficiency is Nutrition made. J Clin Endocrinol Metab 2006. The recom. there are many causes of low IGF-1 levels in addi. dressed whether or not GH replacement should be fur- Genetic forms ther provided in adulthood. limp. If GH secretion is below normal (see age. CBC and others as indicated Molitch ME. Values of IGF-1 above –1 SDS for age Guideline. in collabo- GH assays) is consistent with GH deficiency in a child. or an adult with a history of childhood. de Zegher F. Craen M. and open epiphyses can be after several weeks of treatment withdrawal is impor- examination malnutrition treated with GH without the necessity of testing GH tant since 1/2 to 2/3 patients will exhibit normalized GH Anomalies suggestive of secretion. Thomas M.59:7–15. Vance ML: Endocrine Society’s Chromosomes in female. growth response with IGF-1 levels or free IGF-1 index CNS lesion or history of CNS rum IGF-1 and/or IGFBP-3 are helpful screening tests (IGF-1/IGF-BP3 ratio) in the upper normal range for irradiation or surgery of GH secretion. clonal GH RIA (or equivalent lower value in two-site François I. occurrence of side ef- GH treatment is a careful history and decreased growth rate (Ht <–2. short stature. includ- physical examination. Merriam BA 5 – It is important that any hypothyroidism be GR. due to inadequate GH secretion. tients complaining about headaches or leg pain and Family history of height and lamic disorder should be tested for the ability to se. with the diagnosis of classic GH deficiency. IGF-1 and IGFBP-3 levels Evaluation and treatment of adult growth hormone IGF-1. in patients with childhood-onset GH deficiency: stitutional delay of growth and puberty to distinguish retesting after one year of therapy and at final this normal variant from GH deficiency. especially if there is a history of hypotha- GH vary depending on the conditions. and GH in a GH-deficient patient. Craen M. Maes M: Prevalence tion to GH deficiency. Beckers D. lamic-pituitary disease or cranial irradiation. 1986–2001. and chronic renal failure with significant short stature and persistently low growth slow growth rate and intrauterine growth retardation rate for age may still be considered for a trial of GH (IUGR). deficiency: an Endocrine Society Clinical Practice GH provocative testing (or GH tion in childhood. IGF-1 and IGFBP-3 levels are less helpful in the hormone deficiency in Belgium during the period diagnosis of adult GHD. Ht veloc. Malozowski S. CO2. ESR. The commonly recommended daily dose of treatment. ing benign acute intracranial hypertension and Legg- tion treatment.91: endogenous secretion) in children essentially rule out GH deficiency. The dose of GH can be adjusted to obtain a development crete GH by one or several standardized methods. but with drome and poor growth. 1621–1634. …) ues of IGF-1 and IGFBP-3 below –2 SDS strongly sug. Selected reading Laboratory T4. Hintz · J. ration with the BSGPE: Growth hormone secretion Sex hormone priming may be needed in cases of con. Assessment is required in pa- History Birth history and past growth onset GH deficiency or an acquired pituitary/hypotha. In patients with isolated 3 – Patients with diagnosed Turner syndrome and idiopathic forms of GH deficiency. children with Turner syn. Du Caju M. gest an abnormality of GH secretion or action. Growth R.5 SDS for age. Bourguignon Growth hormone treatment . Heinrichs C. such as malnutrition and chronic and demographic features of childhood growth disease. TSH. BUN or creatinine. energy level. out the necessity of testing of GH secretion. Massa G. De Schepper J. and val. Horm Res 2003. Calvé-Perthès disease. response to ITT. Thiry-Counson G. Shalet SM. Evaluation The key to the initial evaluation for 2 – A child with significant short stature and/or 7 – During GH therapy. Thomas M. Massa G. imaging of the brain and evaluation of other 8 – After completion of growth on GH treatment Use of medications influencing pituitary hormones should be completed. fects has been reported in <1% of the patients. IGFBP-3. the question has to be ad- growth. 44). retesting (ITT) Physical Any evidence of systemic disease or (see p. chromosomal disease U/L ratio (or sitting height) and span 4 – Children with slow growth due to chronic renal failure or IUGR can also be treated with GH with. A peak value of GH in two provocative tests below 10 µg/l in a poly. adults with GH defi- ciency and changes in body composition. Clemmons DR. Provocative GH testing in chil. Se.-P. Maes M. 1 – The commonly approved indications for GH mended GH provocative test in adults is insulin hypo- treatment are for children with significant short stature glycemia and the diagnostic level is below 3 µg/l.

Puberty J.Ê>}œ˜ˆÃÌÊ̅iÀ>«ÞÊ.-P.Ê>}œ˜ˆÃÌ i`ˆV>Ê>˜` `iÛiœ«“i˜Ì ˆ˜…ˆLˆÌœÀà ÃÕÀ}ˆV>Ê“>˜>}i“i˜Ì ˜ÌˆiÃÌÀœ}i˜Ã . Rosenfield Precocious breast development in a girl *ÀiVœVˆœÕÃÊLÀi>ÃÌÊ`iÛiœ«“i˜Ìʈ˜Ê>Ê}ˆÀÊ / ˆÃ̜ÀÞÊ0 14 LÃi˜Ì ÃÜVˆ>Ìi`ÊÈ}˜ÃʜvÊ«ÕLiÀÌÞÊ1 *ÀiÃi˜Ì œÀ“> iˆ}…ÌÊÛiœVˆÌÞÊ2 ˜VÀi>Ãi` 1˜iÝ«iVÌi`ÞʏœÜ œÀ“> Ê3 `Û>˜Vi` *ÕLiÀÌ>Ê«iÛˆVÊ **ʳÊÉ/{Ê`ivˆVˆi˜VÞ¶ …Àœ˜œœ}ˆV> …Àœ˜œœ}ˆV> ՏÌÀ>Ü՘`Ê5 ÃÃiÃÃÊÉ/{ÊÃiVÀ >}iʐÓÊÞi>Àà >}iʀÓÊÞi>Àà *Ài«ÕLiÀÌ>Ê«iÛˆV œʀÊ-ÊÀi뜘ÃiÊ̜ʘ. ̈œœ}ˆV>Ê̅iÀ>«Þ Àœ“>Ì>ÃiÊ ˜.Ê6 "Û>Àˆ>˜Ê­>`Ài˜>®Êˆ“>}ˆ˜} ˆÝi`ÊV…>À>VÌiÀˆÃ̈VÃÉ ÃœÜÊ«Àœ}ÀiÃȜ˜ >vj‡>Շ>ˆÌÊëœÌà ˜v>˜Ìˆi *Ài“>ÌÕÀi 6>Àˆ>˜ÌÃÊ9 `ˆœ«>̅ˆVÊVi˜ÌÀ> "À}>˜ˆVÊVi˜ÌÀ> V ՘i‡LÀˆ}…ÌÊÃޘ`Àœ“iÊ= "Û>Àˆ>˜ÊVÞÃÌÉÌՓœÀ “>““œ«>È>Ê4 ̅i>ÀV…iÊ7 «ÀiVœVˆœÕÃÊ«ÕLiÀÌÞÊ: «ÀiVœVˆœÕÃÊ«ÕLiÀÌÞÊ: ݜ}i˜œÕÃÊÃÌiÀœˆ`à  ‡ÃiVÀï˜}ÊÌՓœÀ Þ«œÌ…ÞÀœˆ`ˆÃ“ -iVœ˜`>ÀÞÊ ** œœÜ‡Õ«Ê}ÀœÜ̅Ê>˜`Ê ˜.L. Bourguignon · R.Ê6 ž-Ê>˜`ÊÊÀi뜘ÃiÊ̜ʘ.Ê6 ÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊÊՏÌÀ>Ü՘`Ê5 *iÀˆ«…iÀ>Ê«ÀiVœVˆœÕà œ-ʀÊ i}>̈ÛiÊ -ʈ“>}ˆ˜}Ê8 *œÃˆÌˆÛiÊ -ʈ“>}ˆ˜}Ê8 «ÕLiÀÌÞÊ< Ài뜘ÃiÊ̜ʘ.

is the treat- age limit may have to be used in particular environmental and ethnic prepubertal child may normally have a few follicles or ‘microcysts’ ment of choice of CPP. The critical is- estrogen action. Juul A. Curr Opin Endocr Diab 2001. nates while the LH response is low in premature thelarche.L. The promoting effects on adult height are lim- groups (e. of an estrogenic effect while measurement of the gonadotropins will associated with severe juvenile hypothyroidism and is reversible un- ic origin. e. particularly the long-acting forms tissue before the chronological age of 8 years in a dence of premature estrogenization besides breast development. no endo. hypothyroidism should be ruled out since it shows a pubertal secretory pattern indicating hypothalamopituitary prevalence of obesity. It should be calculated retrospectively (when data sue is the availability of normative values to interpret the data ob- from school or medical records are available) or prospectively. 100 µg). tained from the laboratory. Ca- hair is often absent early. Cyproterone or medroxyprogesterone show In developed countries. 6). advanced PP starting at borderline age. provide evidence of CPP. 6 – Infantile mammoplasia is a self-limited early form of pre- mature thelarche which may develop during the neonatal period or 12 – It is now recognized that there is a continuum of conditions infancy. The volume of the prepubertal uterus should ited when PP started after 6 years but psychosocial aspects may still cans). puberty. BA ad. 1999. of sexual precocity: variations around the world. Bourguignon JP: Central and peripheral isosexual 5 – BA (X-ray film of left hand and wrist read according to precocious puberty. and the response of both FSH and LH is low in peripheral sexual pre. ticularly if there is any organic cause. idiopathic CPP is about 4–5 times more common than organic CPP and changes after migration. 4 – Height velocity shows early and rapid acceleration under pin measurement as a convenient and reliable index. It asso- swelling of vulvar mucosa. Some authors have suggested the use of urinary gonadotro. up of growth and pubertal development. can account for sexual precocity and slow height velocity. vaginal discharge or bleeding. der thyroxine substitution. A classical manner is the measurement of plasma nal imaging usually requires a CT or MRI scan. When diagnosed when the history. for which no treatment is crine assessment is mandatory but follow-up is necessary.24:668–693. Skakkebaek N. Puberty J. true precocious puberty) is Parent AS. and cyclic fluctuations must be taken into 14 – PPP involves estrogens of ovarian. secular trends vancement may not be significant initially. this condition may rarely be the initial manifestation of true sexual precocity. A different morphology and size of the ovaries and the uterus. Though optimal imaging of this region is provided by MRI. Rosenfield Precocious breast development in a girl . They can be considered when adult stature is not an objective while still further decrease. the secular reduction in average timing of Doppler study of uterine vessel resistance.g. Bourguignon · R. Selected reading creased height velocity should be > the 90th centile (7–8 cm/year be- tween 5 and 9 years of age). The tempo of devel. opment is important information that can be obtained through a 3. When height velocity is unexpectedly 9 – Premature thelarche is usually a self-limited condition but Feuillan P. maturation. while reliable adre- ing towards an organic CNS cause. The ovaries of the given as i. in the severely mentally Alternative factors are the endocrine disrupters.6:303–306. pelvic ultrasound may not yet show evidence human CG-producing germ cell tumors. retarded. A rare form of PPP can be in patients with precocious puberty of abnormal organic or idiopath. LH response shows a characteristic pubertal increase in CPP ciates café-au-lait spots and dysplastic lesions of the long bones. inhibitors in precocious puberty. Lebrethon MC. Indeed. Follow-up involves assessment of breast development and between premature thelarche and idiopathic CPP.8:17–22. Ovarian imaging can 2 – History is critical regarding disorders or symptoms orient. Merke D. fé-au-lait spots are also observed in neurofibromatosis which can be cocity.m. auto-activating mutation in the signaling G-protein system (constitu- 3 – Associated signs may involve pubic and axillary hair. The advanced hypothalamic maturation resulting from PPP may secondarily cause CPP. with partial evi- 15 growth rate every 3–6 months as well as bone maturation at 1. puberty has apparently come to an end but the early age limits may associated with a reduced pulsatility index. If ultrasound is prepubertal. SDs ahead of chronological age (1–2 years depending on age). adrenal or exogenous normal puberty in the early variants of physiological development. erable to the vaginal smear which provides an alternative but inva. although follow-up is necessary. Toppari J. In consideration in interpreting the value. Cutler GB Jr: Use of aromatase low while the other findings indicate increased estrogen activity. Early pubertal stages are less-specific and more-undesirable (glucocorticoid-like) effects. Black Americans are about 1 year ahead of White Ameri. 10 – CNS imaging is required when gonadotropin secretion the timing of puberty in US children in light of increases in the ered (see p. In girls. usually required. The epidemic of obesity has been incriminated. In. associated with CPP and adrenal tumors as well. 20 min. Additional information comes from the provide an indication.g. the reader should refer to the local standards and experience. migration different ways. up to 4 mm in diameter. a CT scan is informative as well. Endocr Rev 2003. Sexual trast. Teilmann G. This tempo is usually low and comparable to sitive to <10 pg/ml is used. physical examination and imaging of Bourguignon JP: The timing of normal puberty and the age limits increased estrogen secretion has occurred very recently. 1 – Precocious breast development is the occurrence of breast 7 – Pelvic ultrasound is a noninvasive method to evaluate 13 – GnRH agonist therapy. a prepubertal level of Himes JH: Examining the evidence for recent secular changes in serum IGF-1 is suggestive and GH stimulation test should be consid. 2-year intervals. for international adoption has emerged as a new cause of precocious gonadotropins before. arrest of puberty and menses is wanted. In some patients seen very origin.254–255:13–21. Mol Cell Endocrinol 2006. If a persisting estrogenic effect is suspected. fast progression throughout pubertal stages may be seen early during puberty. Leschek EW. Endocrine-Related Cancer deficiency could be associated with central precocious puberty. Then. In several countries. tive mutation only observable in cells from affected tissues). GH may be the initial manifestation of CPP and requires clinical Plasma estradiol measurements are not reliable unless an assay sen- 6-month follow-up. which involves causes such as CNS tumors. and 60 min after a bolus injection of GnRH at a dose of 1 µg/ 15 – McCune-Albright syndrome results from tissue-specific kg (max. standards such as Greulich and Pyle) advancement means at least 2 11 – Idiopathic CPP (or complete. True sexual precocity may rarely be caused by intracranial contrast. pelvic Such conditions involve the slowly progressive variants of CPP and ultrasound will be requested. In con.-P. par. be ⱕ2 ml (length ⱕ4 cm). Typically. Likewise. the secretory response of FSH predomi. the CNS do not indicate any possible etiology or mechanism. 8 – Gonadotropin secretion (FSH and LH) can be assessed in be initially obtained through pelvic echography. Pelvic ultrasound is pref. injections every 4 weeks or every 3 months. sive method to assess estrogenization of the female genital tract.

ʜvÊ - Ê˜œÀ“> ÊÃÕL˜œÀ“>ÊvœÀÊ>}i ž‡£ÊvœÀÊ>}i L˜œÀ“> œÀ“> œ ­˜ÊVœÀ̈܏] œ/ ]Ê-Ê>˜`Ê/® œÉ- žÉ- ÊÌiÃ̈˜}Ê­«°Ê{® ž/ÊvœÀÊ>}i ž/ÊvœÀÊ>}i ž ˜Ê œ /iÃÌiÃÊ«>«>Li /iÃÌiÃʘœÌ «>«>Li … ÊÌiÃÌ /ʈ˜VÀi>Ãi œÊ/ >vÌiÀʅ  Ài뜘Ãi *>˜…Þ«œ«ˆÌՈÌ>ÀˆÃ“Ê1 .ÊÌiÃÌÊ4 ÊÌiÃÌ ‡£ œÀ̈܏ /{]Ê/- / ˜. Intersex M. Hintz Micropenis at age 1 year to puberty ˆVÀœ«i˜ˆÃÊ>ÌÊ>}iÊ£ÊÞi>ÀÊ̜ʫÕLiÀÌÞÊ / 36 -œÜÊ}ÀœÜ̅Ê0 œÀ“>Ê}ÀœÜ̅ …iVŽ\ ˜.ÊÌiÃÌ .L. Ritzén · R.

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Adrenal F.G. Hochberg Hypertension Þ«iÀÌi˜Ãˆœ˜Ê / 46 7iˆ}…Ì *>Ó>ÊÀi˜ˆ˜Ê>V̈ۈÌÞÊ0 Ài>̈˜ˆ˜i V…œV>À`ˆœ}À>«…Þ œÜÊÀi˜ˆ˜ ˆ}…ÊÀi˜ˆ˜ `œÃÌiÀœ˜iÊ1 `œÃÌiÀœ˜iÊ1 >ÌiV…œ>“ˆ˜ià žÊ`œÃÌiÀœ˜iÊ2 œÊ`œÃÌiÀœ˜iÊ6 œÊ`œÃÌiÀœ˜i . Sippell · Z. Riepe · W.

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6 – Neonates with low serum total and free T4 Trotsenburg AS. 2005. Peter F: Thyroid dysfunction in the offspring of 3 – Serum free T4 should be measured by direct mothers with autoimmune thyroid diseases.42:146–154. presence of familial disease is important for genetic Fisher D: Next generation newborn screening for tral (hypothalamic-pituitary) etiology with the lowest counseling of the parents. and has no known risk and can be easily and accurately Sundararajan S. Clinical features often seen in infants with con- binding globulin measurement: potentials and of the infant may disclose the etiology for abnormal genital hypopituitarism include: (a) unexplained hypo- pitfalls. Liang L. Public hypothyroidism using dried blood specimens are: antibodies). chap 16. thyromegaly. roid disease may be associated with transplacentally order to determine or exclude the presence of CRF- Morreale de Escobar G.90:3797–3799. cortisol test is required before T4 therapy is started in La Gamma EF. (c) midline facial and/or Knobel M. disorders of the thyroid hormone generating that may induce transient primary congenital hypothy. van Heijst AF. The thyroid dysgenesis and the life-long need for thyroxine on Endocrinology and Committee on Genetics. Ares S.13:771–801. J Clin Endocrinol Metab 2006. Lanting CI.117:2290–2303. Jiang Y. (c) maternal iodine deficiency or exposure of mother and/or neonate to Nelson JC. Lawson Wilkins Pediatric (a) primary TSH screen. Wiedijk BM. (b) primary T4 screen with con. Kaplowitz PB. on specimens with low T4 screening results reduces 5 – Undetectable serum thyroglobulin values the number of false-positive rates on with low T4 confirm the absence of thyroid tissue or the diagnosis Fu J. other two programs. Wilcox RB: Analytical performance of supraphysiologic amounts of iodide may cause tran. thyrotropin. Verkerk PH. and thyroxine- 2 – Maternal history and physical examination ism. Brown RS. performed and interpreted by experienced pediatric screening and therapy for congenital hypothyroid- ment of TSH and total T4 on every neonate provides nuclear medicine specialists. Quero J. Pediatrics 2006. congenital hypothyroidism? J Clin Endocrinol false-negative results. vol 2. 1996. Section avoid a higher frequency of false-positive values. The measure. Clin Chem sient neonatal goiter and hypothyroidism.90:3350–3359. insulinemic hypoglycemia. Varma SK: Update of newborn (c) primary TSH and primary T4 screen. 77 Van Vliet G. normal or mildly elevated serum TSH must Neonatal screening for congenital hypothyroidism be evaluated for hypothalamic-pituitary hypothyroid- based on thyroxine. the ally prior to discharge. Informa Healthcare. ed 5. Medeiros-Neto G: An outline of inherited placentally acquired TSH-receptor-blocking antibodies CNS birth defects. van free T4 screening method is available.P. van Tijn DA. mented in cord or neonatal serum specimens by cor- relation with values obtained by direct dialysis. Foley. The procedure Endocrine Society. though very de. de Vijlder JJM. and low. pp 391–404. Polak M: Thyroid disorders in infancy. or a normal. 2006. three most common screening methods for congenital therapy. ter in the absence of iodine deficiency. Péter Congenital hypothyroidism . Thyroid T.94:1043–1048. (b) maternal autoimmune thy. Kok JH.91:3370–3376. screening tests for hypothyroidism: (a) maternal auto. Verbeeten B Jr. fants (micropenis and testicular volume 1 ml). (c) familial dyshormonogenesis with goi. Acta Paediatr the cost of screening for CH as low or lower than the sized thyroid. Vulsma T: sirable. (b) combined direct and immune thyroid disease may be associated with trans. free and total thyroxine assays. (b) athyreosis (in the absence of TSH-receptor American Thyroid Association. indirect hyperbilirubinemia. therapy is initiated in order to prevent the induction of rity: beneficial or detrimental? Treat Endocrinol centa and may cause neonatal goiter with/without acute adrenal insufficiency. To date no valid and reproducible Kempers MJ. Jr. · F. van Wassenaer AG. 1 – Newborn screening tests: The dried blood 4 – A thyroid image by ultrasound or scan with Selected reading specimen is collected by heel prick of the infant usu.94:1008–1010. Thyroid 2003. 2007. dialysis or methods whose validity has been docu- Acta Paediatr 2005. transient primary hypothyroidism. Zhu H: Risk factors of primary screening values. Rose SR. Vulsma T: Neonatal detection of congenital hypothyroidism of central origin. The use of tandem mass spectrom. Fisher D: Neonatal thyroxine supplemen- mothers with active Graves disease who are receiving values must be treated with hydrocortisone before T4 tation for transient hypothyroxinemia of prematu- treatment with antithyroid drugs that cross the pla. in Lifshitz F (ed): Pediatric Endocrinology. A serum system. A scan to suggest the ism. and primary hypothyroidism. with autoimmune thyroid disease. Infants with low cortisol Paneth N. firmatory TSH on the lowest 5–20% of T4 values. J Clin Endocrinol Metab 2005. comprehensive screening for CH of primary and cen. Foley T. de Vijlder JJ. technetium pertechnetate will confirm within 2 h.5:335–346. thyroid dysfunction in early infants born to mothers etry to measure along with many other analytes keeps dren with a eutopic thyroid. Kaye CI. Golombek SG. preferably after 24 h of age to suspected diagnosis of these disorders: (a) ectopic American Academy of Pediatrics. Section III: Thyroid Disorders. Health Committee. roidism in the neonate. of thyroglobulin synthetic defects in neonates or chil. acquired TSH-receptor-stimulating antibodies from ACTH-Adrenal Insufficiency. and (d) hypogonadism in male in. The addition of TBG screening Metab 2005. New York.

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uncontrollable 11 Clitoromegaly 52 Electrolytes. 66 108 Acanthosis nigricans 32. reduced 106 receptor defects 9 . supravalvular 69 syndrome. partial. 100 excess. 106 fever 58 Adrenocorticotropic hormone. insensitivity 8 advanced 16 hypertonic 60 African-American 100 Brain Diabetes Albright osteodystrophy 11 damage 39 drug-induced 98 Albumin 68 irradiation 12 insipidus 58. 102 exogenous 16 Type 2 98. 94 Craniopharyngioma 10 after newborn period 52 Bicarbonaturia 62 Cryptorchidism 22. 32. 32 Chemotherapy 74 Dyshormonogenesis of thyroid 76. 56 Adrenal rests 34 mass index 10 Adrenal tumor 16 Adrenarche 18. 58. 32. 34. insufficient 56 nervosa 25. 100 insensitivity. 100 Autonomous nervous system. 42 in newborn period 50 Blue diaper syndrome 69 Cushing nonclassical 18. 78. 22. 104 primary. 52 D Dehydration 50. 18. 98. 62 fat. redistribution 48 syndrome 10. hypothalamic 30 precocious 14 mellitus 54. 31 Central nervous system lesion 6 Diuretic excess 62 Anovulation 29. human 14 tumors 16 E Ear lobe fissures 94 Eating disorder 30 Apocrine sweat odor 53 Clitoral hypertrophy 19 Edema. 104 athletic. 10. changed 19 Bone age 6. 44 hard 21 immune-mediated 96. insensitivity 8 Athletic amenorrhea 26. Index of Signs and Symptoms A Abdominal pain 106 Athyreosis 76 Conn syndrome 56. 98. 104 Androgen(s) irregular consistency 21 non-immune-mediated 96. female newborn 44 Appetite. signs 53 Burns 60 Type 1 100. mild 56 Diuresis. 98. 14. 58. 85 Anovulatory disorders 30 Chorionic gonadotropin-secreting Anthropometry 2 Aortic stenosis. 38. 48. 30 Conscious level. incomplete 36. 53 Autosomal-dominant inheritance 104 Corneal drying 81 Adipomastia 21 Coronary heart diseases 11 Adrenal hyperandrogenism. primary functional 32. 74 Cortical suppression normal 34 Cortisol resistance and metabolic defects 34 Adrenal hyperplasia. 84. 52 odors. secondary 28. 100. 34 B Bardet-Biedel syndrome 54 Bartter syndrome 66. 100. 100. activation 95 Convulsions 63 Acne 11. 40 Coarctation 46 Enterostomy losses 66 inhibitors 16 Cohen syndrome 10 Estradiol 30 Aromatization excess. urea 106 Aromatase isolated. 54 development maternal 94 Amenorrhea delayed or absent 24 maturity-onset of the young 96. congenital Beckwith-Wiedemann syndrome 8. familial 20 Coma 106 Estrogen Athlete 24 Confusion 106 deficiency. 66 Breast(s) central 54 Alopecia 32 bloody discharge 21 dipsogenic. 29 Carpenter syndrome 10 Diuretic (ab)use 63 Anosmia 22. 60 Cardiac insufficiency. 24. pituitary 54 Alström syndrome 10. 60 Aldosteronism 46. vaginal fusion 26 Elfin faces 69 deficiency 9. 98. 34 Body disease 48 Adrenal insufficiency 58. 38 C Calcium levels Diabetic ketoacidosis 106 insensitivity syndrome 8 serum 72 Diabetic mother 10 resistance 26 urine 72 Diarrhea 58 suppression 34 Calcium receptor defects 70 chronic 74 normal 34 Caloric intake 10 profuse 66 subnormal 34 Cardiac arrest 64 Diencephalic syndrome 2 Anorexia 24.

true 40 primary. 76. 30. 14. 34 Hypospadias 37. idiopathic 32. 34 Hypophosphatemic rickets 72 deficiency 24. 98. 18. other 20 intolerance 11 Hirsutism 11. abnormal 32 Hearing 44 late 74 Germinal failure. 24 Hypodipsia 60 Glucocorticoid deficiency 62 increased 8. 38 Hyperinsulinemia 11. 72 deficiency 6. 22 Graves disease 80 Hypercortisolism 11 Euthyroid 82 maternal. 18 Hypoglycemia 9. 26 Hyperandrogenism. boy 16 Heart Hyperventilation 60 Genitalia disease. primary 22 Height velocity 4 severe 74 Gigantism. pubic 19 familial dysalbuminemic 92 Genital anatomy. 82. axillary. 84 false 20 neonatal 82 G Galactorrhea 31 idiopathic prepubertal 20 Hyperthyroxinemia 90. 10. maternal 70 Goitrogens 84 secondary 46. abnormal 26 Hashitoxicosis 80 Hypertrichosis 32 Genital development. 14. rapid 94 Hermaphrodite. 100. 19. 102 hyperthyroxinemia 92 Growth mild/moderate 100 Exophthalmos 80 abnormal 12 severe 100 acceleration 9. 94 Fat childhood 6 Hyperkalemia 64 distribution 10 classic 4 Hyperlipidemia 11 subcutaneous 69 insensitivity 36. congestive 62 neonatal 70 internal. 60 Hypopituitarism 39 Gonadotropin Hyperandrogenemia 32. 74 fasting 96 Histiocytosis X 55 Hyponatremia random 96 Homocystinuria 8 hypervolemic 62 109 Glucosuria 60 21-Hydroxylase deficiency hypovolemic 62 Glycosuria 102 mild 52 normovolemic 62 Goiter 29. Ethnic background 100 isolated 22 Hypercalcemia 54. cerebral 8. 10 isolated 9 normal 8. 40 idiopathic 30 Index of Signs and Symptoms . 15. 15. 22. 84 insensitivity 38 Hyperosmolar nonketotic state 100 Fibrous dysplasia 72 syndrome 4 Hyperphosphatemic rickets First-degree relative treatment 6 autosomal-dominant 72 type 1 diabetes mellitus 98 normal 36 autosomal-recessive 72 type 2 diabetes mellitus 98 rate 8 calciuria 73 Fluid poor 44 Hyperpigmentation 52 depletion 58 rate. 66 Glucose blood idiopathic 31 Hypomagnesemia 70. 84 moderate 52 Hypoparathyroidism. 12. congenital 45 Hypocalcemia ambiguous 50 failure. 32. neonatal 82 Hyperglycemia 96. declining 48 Hyperthermia. 46. malignant 64 Fructose intolerance 94 Gynecomastia Hyperthyroidism 8. congenital adrenal 16. acute 92 congenital 28 determination. 68. 64 overload 56 poor 6 Hyperprolactinemia 32 requirements 107 retardation 11 Hypertension 11. 80. reduced 6 Hyperplasia. 52 Hyperhidrosis 32 F Failure to thrive 2 hormone Hyperhydration 56 Fanconi syndrome(s) 66. 38 Hypernatremia 60 Feminizing disorders 21 excess 8 essential 54 Fever 80. 68 high risk for diabetes 100 organic 30 neonatal 68 Ethnic groups 19 secretion 17 Hypercalcemic crisis 68 Eunuchoid habitus 9. 23. 100 Hypokalemia 54. 92 Gastrointestinal injury 75 autoantibody-associated 92 Genetic counseling 19 H Hair. 16. 80. 9 decreased 22. 70. precocious. 24 infants and children 94 Glucocorticoids 7 Hemodialysis 60 Hypogonadism 8 Glucose 38 Hepatocellular insult. 52 resuscitation 107 slow 36 renovascular 46 Fragile X syndrome 17 velocity. 38.

no maternal diabetes 94 P Panhypopituitarism 36–38 juvenile 78. 102. 84 Nonpathogenetic stigmata 28 Poor length gain 2 exposure 76 Nystagmus 94 Prader-Willi syndrome 10 Prealbumin (transthyretin) hyperthyroxinemia 92 J Jansen’s metaphyseal dysplasia 68 O Obesity 10. infantile 14 large 19. 62. mean. 70 Maternal deprivation 2 Peutz-Jeghers syndrome 21 Ileus 66 Menstrual disorder 11 Pheochromocytoma 46 Immobilization 68 Mental retardation 69 renal 46 Incubator temperature 60 Micropenis 36. 70 Ovaries true. present 20 development 17 . 48. 68. 28 central (true) precocious 16 cirrhosis 56. 36 simple 10 test positive 26 Ketoacidosis 100. 19. 90 Macro-orchidism. 90 Malabsorption 70. 94 Phosphate deficiency 72 Infant Mineralocorticoid excess 46. Liver Ovarian failure. 34. generalized deficiency 92 Pituitary feed. 42. 38. 32. 30 infantile central precocious 14 Lipodystrophy. hormonal deficiency 92 Inflammatory bowel disease 27 tumor 30 Insulin N Nasogastric reflux/aspirate 66 Pituitary/hypothalamic disease 6 exogenous (factitious hypoglycemia) 94 Neonatal goiter 84 Polycystic ovaries syndrome 10. 52 Marfan syndrome 8 size. 106 deficiency 76. delayed 12 disease 20. stretched 17 110 secondary. 70 Klinefelter syndrome 9. tall. primary 24. 100 Precocious pubarche 18 Jaundice 94 infantile 10 Prediabetes. without virilization 16 hypothalamic pituitary 90 Macrosomia. precocious 8 chronic 21 not polycystic 34 Pubic hair 53 Lymphedema 45 absent. functional 32 precocious. 62 Ovarian hyperandrogenism. 56. 58. 40 Nephrotic syndrome 56. 100 requirements 102 Neonatal rickets 72 atypical 34 Insulinoma 94 Neonatal thyrotoxicosis 82 classical 34 Intersex 26. smell of 106 Omphalocele 9 Prolactinoma 22 Ketonuria 62. 70 nonclassical 34 Intestinal absorption defect 74 Neurofibromatosis 8 Polydipsia 102. 106 Oily skin 53 Prematurity 94 Ketonemia 94 Oligomenorrhea 28. 102. 62. 62. 16. tertiary 76. 98. 60. 14. 30. 102 Laxative abuse 66 tumor-induced 72 abnormal 12 Leptin 10 Osmotic diuresis 62 delayed 42 Lethargy 106 Otitis media 45 idiopathic central precocious 14 Liddle syndrome 46 Ovaria 28. 10–12. mistake in preparing 60 Mumps orchitis 21 disorder 6 Infertility 44 Muscular twitching 75 multiple. other types 78 Macroglossia 94 Overweight 10 congenital 76. Index of Signs and Symptoms Hypothyroidism 7. 72 Parents. 29 Prolactin 30 Ketones. total 8 Ovarian/adrenal tumor 34 organic central precocious 14 Liquorice abuse 66 Ovarian cyst/tumor 14 peripheral (pseudo)precocious. 66. 78 short gut syndrome 74 Penis Hypothyroxinemia 90 Mammoplasia. 29 L Laurence-Moon-Biedl syndrome 10 Osteomalacia Puberty 8. 66 Pima Indian 100 diabetic mother 74 5’-Monodeiodinase. increase 23 I Iatrogenic reasons 20. 106 Intrauterine adhesions 28 Neuroglycemia 95 primary 62 Iodine Newborn screening tests 76 Polyuria 54. prediction of diabetes 98 mild truncal 11 Pregnancy 28 K Kallmann syndrome 29. non-tall 8 primary 30 Malnutrition 2 Penile length. 32. 20 Organomegaly 9 Psychological problems 102 Osmolality 62 Psychological stress 2. 94 Optic glioma 9 Pseudogynecomastia 21 acidemia 106 Orchidopexy 22 Pseudohypoaldosteronism 64 Ketotic hypoglycemia 94 Orchitis 20 Pseudohypocalcemia 70 Kidney malformation 45 torsion 22 Pseudohypoparathyroidism 10. 84 M McCune-Albright syndrome 14 polycystic 34 acquired.

23 autonomous 80 Weakness 106 female 44 children. Kussmaul 106 Testicular atrophy 36. texture. partial or adult. 40 Seizure 94 ectopic 76 absent. renal 58 Thyroglossal duct. 100 calcitriol-resistant. 38 Toxicosis. 88 Ventricular fibrillation 64 Sea water intoxication 60 cyst. hepatic 72 hypoparathyroidism 72 Testicular volume 17 bilateral increase. 84. secondary 9 hormone(s) maternal 41 chromosome disorders 8 generalized resistance to 92 rapid 29 differentiation 39 partial peripheral resistance 78 Vomiting 50. 50 characteristics. 106 medullary carcinoma 86 volume depletion. 19. pigmentation 17. 87 increased incidence 45 subacute 80. 92 no exposure 88 familial 8 factitia 80 Renal disease 54 unexplained 9 non-immune-mediated 83 Renal failure 56. premature 14 S Salt-losing nephropathies 62 Salt loss. adolescents 86 Weight 46 idiopathic 4 clinically euthyroid 86 gain Sleep apnea 11 multiple 87 poor 2 Small for gestational age 74. 82. 62. dysfunctional 29 Thelarche. hyperpyretic 58 Renal insufficiency. peripheral 18 pituitary resistance 80 prolonged 66 Shock 63. 70 Testes Tingling 75 acute 74 small 10. with hypothyroidism 88 (juvenile) chronic lymphocytic 78. delayed or absent 22 Type 1 diabetes mellitus 100. chronic 60 retractile. 106 Steroidogenic block(s). vitamin D-dependent. 44 Rheumatic disease 25 Testicular development. vanishing 42 Tremor 75 Renal tubular injury 75 two prepubertal 16 Tremulousness 94 Respiration deep-sighing. acute 58 nodule(s) 84 W Water depletion 60 Short stature 4. unilateral increase 16 U Undernutrition 30 Undervirilized boy 40 neonatal 72 Testosterone-binding globulin Underweight 26 X-Iinked hypophosphatemic. 23 carcinoma 86. abscess 85 Thyroid V Vagina blind. 106 Sexual precocity. cerebral 54 adenoma 88 congenital absence 27 Sarcoidosis 54 toxic 86 Vaginal aplasia 26 Scrotal size. exogenous 14 Thyroid-stimulating hormone receptor Wolfram syndrome 54 Sweatiest 62 activating mutation 80 Sweating 94 Thyroid-stimulating hormone-secreting pituitary adenoma 80 X X chromosome defects 28 111 Thyroiditis autoimmune. 38 Turner syndrome 24. R Rachitic bone changes 73 T T4-binding protein abnormality 76 Thyrotoxicosis Radiation Tachycardia 80. central. but small testes 22 Sex eutopic 76 girl 40. isolated 26 wasting. 94 storm 80 rapid 48 Sodium overload 60 tender/painful swelling 84 loss 102. 6. 84 suppurative 84 Index of Signs and Symptoms . 94 biochemical 92 exposure 88 Tall stature clinical 86. isolated 86 Vitamin D 25-hydroxylase deficiency 72 Seborrhea 32 disease 82 Virilization 18. 28 tenderness 80 William’s syndrome 68 Steroids. 80. 102 Rickets 70 Testicular dysgenesis 38 Type 2 diabetes mellitus 98. autosomal-recessive deficiency 76 Urinary tract infection 50 hypophosphatemic with calciuria 72 increased concentration 92 severe 96 Rokitansky syndrome 26 Testotoxicosis 16 Uterine bleeding. primary 22 hypophosphatemic. Testicular failure. 58.

Abbreviations ⌬4 = Androstenedione FPG = Fasting plasma glucose PCR = Polymerase chain reaction 112 ACTH = Adrenocorticotropic hormone FPIR = First-phase insulin response PE = Physical examination ADH = Alcohol dehydrogenase FSH = Follicle-stimulating hormone PG = Prostaglandin AIS = Androgen-insensitivity syndrome PPP = Peripheral precocious puberty AME = Apparent mineralocorticoid excess GAD = Glutamic acid decarboxylase PRA = Plasma renin activity APA = Aldosterone-producing adenoma GH = Growth hormone PRL = Prolactin ATPO = Antithyroid peroxidase GHBP = Growth hormone-binding protein PTH = Parathyroidhormone GHD = Growth hormone deficiency PTHrp = PTH-related protein BA = Bone age GHRH = Growth hormone-releasing hormone PTU = Propylthiouracil BMI = Body Mass Index GI = Gastrointestinal BUN = Blood urea nitrogen GnRH = Gonadotropin-releasing hormone RDS = Respiratory distress syndrome RU = Resin uptake CAH = Congenital adrenal hyperplasia hCG = Human chorionic gonadotropin CBC = Complete blood count HNF = Hepatocyte nuclear factor S = Serum CDGP = Constitutional delay of growth and 11␤-HSD = 11␤-Hydroxysteroid dehydrogenase SDS = Standard deviation score puberty Ht = Height SGA = Small for gestational age CF = Cystic fibrosis SHBG = Sex-hormone-binding globulin CG = Chorionic gonadotropin IAA = Insulin autoantibodies SIADH = Syndrome of inappropriate ADH secretion CHO = Carbohydrate ICA = Islet cell antibodies CIS = Carcinoma in situ IGF-1 = Insulin-like growth factor T = Testosterone CMO = Corticosterone methyl oxidase IGFBP = IGF-binding protein TBG = Thyroxin-binding globulin CPP = Central precocious puberty IGT = Impaired glucose tolerance TBPA = Thyroxin-binding prealbumin CRH = Corticotropin-releasing hormone IHA = Idiopathic hyperaldosteronism T1DM = Type 1 diabetes mellitus CT = Calcitonin T2DM = Type 2 diabetes mellitus CVP = Central venous pressure JDF = Juvenile Diabetes Foundation TGAb = Thyroglobulin antibody THE = Tetrahydrocortisone DCCT = Diabetes complications and LH = Luteinizing hormone THF = Tetrahydrocortisol control trial THS = Tetrahydro-11-deoxycortisol DDAVP = 1-Deamino-d-arginine vasopressin MCT = Medullary carcinoma of thyroid TPOAb = Thyroid peroxidase antibody DHEAS = Dehydroepiandrosterone sulfate MCV = Mean corpuscular volume TRAb = Thyrotropin receptor antibodies DHT = Dihydrotestosterone MEN = Multiple endocrine neoplasia TRH = Thyrotropin-releasing hormone DI = Diabetes insipidus MODY = Maturity-onset diabetes of the young TRP = Tubular resorption of phosphones DKA = Diabetic ketoacidosis MRI = Magnetic resonance imaging TSAb = Thyroid-stimulating antibodies DOC = Deoxycorticosterone TSH = Thyroid-stimulating hormone DSH = Dexamethasone-suppressible nl = Normal TSHR = Thyroid-stimulating hormone receptor hyperaldosteronism NOCAH = Nonclassical adrenal hyperplasia TSI = Thyroid-stimulating immunoglobulin NSD1 = Nuclear receptor set domain containing E1 = Estrone protein 1 gene U = Urinary E2 = Estradiol NSAID = Nonsteroidal anti-inflammatory drugs U/L = Upper/lower ECF = Extracellular fluid UFC = Urinary free cortisol ERG = Electroretinography OGTT = Oral glucose tolerance test URTI = Upper respiratory tract infection ESR = Erythrocyte sedimentation rate OHD = Hydroxylase deficiency UTI = Urinary tract infection OHP = Hydroxyprogesterone F = Follicular OT = Osmotic threshold W/U = Work-up FAH = Functional adrenal hyperandrogenism WBC = White blood cell count FNA = Fine-needle biopsy P = Plasma FOH = Functional ovarian hyperandrogenism PCO = Polycystic ovary ␣-FP = ␣-Fetoprotein PCOS = Polycystic ovary syndrome .