Pleno kelompok 3A


• Sex of rearing : pattern of how-to-raise an individual according to sex. • Phallus : the primordium of penis or clitoris that develops from genital tubercle. • Chordee : downward bbowing of the penis as a result of congenital hypospadias or a urethral gonorrhoea infection. • Hypospadias : a developmental anomaly in which the external urethra orificium opens inferior to its usual location. • Penoscrotal hypospadias : hypospadias in the male with the urethral orifice at the junction of the penis and scrotum, sometimes associated with congenital chordee • Gonad : a gamete-producing gland; an ovary, testis, or ovotestis. • Genitography : radiography of the urogenital sinus and internal duct structures after injection of a contrast medium through the opening of the sinus. • Bifid scrotum : a separation of the two halves of the scrotum, as in penoscrotal transposition

• DSD : Disorders of Sex Development; a congenital condition in which development of chromosomal, gonadal, or phenotype sex is atypical. • 46 XY DSD : male pseudohermaphroditism, in which has 46 XY karyotype and genital ambiguicity (undervirilization) with penoscrotal hypospadia, with or without chordee. • 46 XX DSD : female pseudohermaphroditism, in which has 46 XX karyotype and genital ambiguicity (virilization).

4.PROBLEMS IDENTIFICATION (BRAINSTORMING) 1. 9. Why Putra urinate in squat position? How to diagnose this defect earlier after birth? How is the referral did by the doctor? What is the interpretation of general-to-genitaliaregion examination? Why Putra is working diagnosed as 46 XY DSD? What is the next upcoming examination needed by Putra? What is the management of Putra and why it has to be multidiscipline team needed in managing Putra? What is the differences between 46XX DSD and 46 XY DSD? What is the prognosis of Putra’s conditions? 5. 8. . 7. 6. 2. 3.

– Chordee and hypospadia posterio (including penoscrotal hypospadias)  emmision of urin while urinate spreading widely  squatting to shortened the distance between OUE and urination place 2. as if in 46XY DSD with its hypospadias and 46XX DSD with its clitoromegaly 3. maintaining. and correcting the defect/disorders . It can be detected after birth. Referral was did as soon as possible in order to diagnosing.1.

No physical abnormality .4. General examination: . small (N= 7cm) .Phallus 2 cm = abnormal size .No others congenital anomaly Genitalia region examination: .No gonad in left scrotum = undescendsus testis or agenesis testis .No pubic hair = no puberty .Chordee & Penoscrotal hypospadias = Congenital anomaly .

DHH-gene.Can be raised in to male .Et causa gene defect.Defect in gonad differentiation with testicular elements (.Can be followed by Mullerian structures . 46 XY DSD .Genital ambiguicity with penoscrotal hypospadia (mild to severe). NROB1gene.5. SRY-gene. with or without chordee . FSH. testosteron.Autosomal resessive .) 6.Sperm production can be reduced to none . Hormone test : LH.kariotype 46 XY . etc. WNT4-gene. SF1-gene. androgen Chromosome analysis Abdominal USG HCG test ACTH stimulating test .

Et causa gene defect. etc. Hormone test : LH.) 6.5. WNT4-gene.Sperm production can be reduced to none . 46 XY DSD .Can be raised in to male .Autosomal resessive . SF1-gene.kariotype 46 XY . DHH-gene. androgen Chromosome analysis Abdominal USG HCG test ACTH stimulating test .Defect in gonad differentiation with testicular elements (. SRY-gene.Genital ambiguicity with penoscrotal hypospadia (mild to severe). testosteron.Can be followed by Mullerian structures . with or without chordee . NROB1gene. FSH.

Paramedics. = in reposition and reconstruction the anomaly congenital while make sure that patient has a normal erection due to coitus and fertility .Spritual consellor . etc. The management of Putra has to multidiscipline due to aspects affected in Putra’s life medically or non-medically relevant. consultation. .Endocrinology. due to mental stressor and making him not depressed etc. Gynecoplasty.7. .Surgeon.Psychosocial = making peer group. .

male pseudohermaphroditism. disorders of anti-Mullerian hormone. 46 XX DSD . Genetically determined as male but has some female genitalia external structure. female pseudohermaphroditism. . 46 XY DSD . which can be reconstructed in children. CAH. AISS. Genetically determined as female but has been remarkable as male due to the appearance.8. atresia vagina. hypospadia. CAI. ovarian development disorders. etc. etc.

and making a new external urethral meatus. penis straightening. 8 months old by chordee removing. Leydig cells damaged. which now Putra is 9year-old-boy.  less s \permagenesis. There are 2 possibilities. .9.Accomplished  normal urination process .Failed  Stricture  abnormal urination Fertil or not? Hypospadia posterior (include penoscrotal)  sperm emission abnormal  the amount of sperm needed in penetrating are less than the needed If it is followed by undescend testis. it can narrows to fertility. it is too late to save the testis due to overheat temperature in body makes Sertoli cells. . Process of urination has to be corrected +/.


differential diagnosis. risk factor. prognosis. pathogenesis. clinical manifestations. working diagnosis. pathophysiology. . epidemiology. etiology. lab examination. referral. comprehensive management.LEARNING OBJECTIVE • • • • Students are able to explain about : Embriology of Urogenitalia System Disorders of Sex Differentiation Congenital anomaly of Urogenitalia System  classification.

rectum. genital .ekresi pair entered into a terminal cloaca.Embryology urogenital system Embryology urogenital system system urogenitalia a.urogenital derived from mesoderm bridge (intermediate mesoderm) along the posterior abdominal wall b.primordium bladder.

system urinarium a.L3 formed tubules + elongated and twisted rice glomerular capillaries korpuskulum renale tubules in lateral pars into longitudinal koligentes ductus ductus aka wolfii a.k.Sistem kidney 1.a duct mesonefrikus .Pronefros formed early week 4 is located in the cervical region 2.Mesonefros arises when pronefros began in pars thoracic regression .

Tubules into wolfii mid-month2mesonefros ovaid formed on both sides of the center line (in the medial gonad) urogenital ridge caudal tubules continue to differentiate women: gone men: caudal tubules settled dc.mesonefrikus form genital tract .

3.Metanefros Appears in week 5 dc.metanefrospenetrate the distal tip of his hat like a wide  pelvis renalis primitif menjadi kranial dan kaudal kaliks mayor  forming buds and continue to divide The end result: the ureter. Calix minor. renal pelvis. major Calix.koligentes formed ureteric bud jar. pyramid renal tubules 0.1 to 3 million koligentes .

system ekskretorik From the end of the tubular koligentes had no network covermetanephric tissue caporm small vesicles. small vesicles. kidneyshaped tubules S capillaries grow at one end of the tubule S Glomerulus +tubule nephron .

Nefron terus memanjang tub.kontortus distalis Nefron terus terbentung 1juta nefron/ginjal ketika lahir Nefrondi ujung proximal nya membentuk kapsula bwman ujung distal:membentuk hub.ansa henle.dengan tub.koligentes .tub.kontortus prox.

Kidney position: his early panggul.naik region to new cranial abdomen Renal function: Renal definitive (from mesonephros) start functioning before week 12. .

the epithelium proliferates Formatting prostatic urethra bud. growing out into the mesenchyme lk:prostat wanita :glomerulus .urethra Epithelium of the urethra: endoderm Connective tissue and smooth muscle derived from mesoderm splanknik Late last month to 3.

sistem urogenital (anterior) bladder pelvis: prostatic urethra and pars membranasea phallus .bladder 4-7 weeks cloaca is divided into a.

b.Septum urorectal edges form a corpus perineale c.Kanalis analyst (posterior)

system genitalia
In the genes: SRY gene on chromosome Y.gen SRY testis determining factor would issue gonad Recently formed in week 7

Testes in men germinativum primordial cells mya carrying XY SRY increased proliferation of primitive sex cords  penetrate into the medulla  forming testes Sel leydig : minggu ke 8

Ovarium XX germinativum primitive cell ovarian medulla forge enyap then be replaced by the stromal vascular form of ovarian medulla If the cord of his men will continue berproloferasi in women weeks to 7 epithelial shape to a second generation korda kortikalis  months to 4 split around sel germinativum oogonia

genital duct a.Stadium indifference 2 pairs of duct: duct mesonephros (wolfii) ductus paramesonefros (miliary) Molecular regulation SRY: key genes forming testes Sox9: anti gen Mulier .

ejakulatorius vesikaseminalis SF1+S0X9AMH regresi millier Hormon testosteron oleh 5alfa redutase DHTdif genitalia eksterna .ductus deferen.penis skrotum .sel sertoli dan leydig hormon testosteron wolfii berkembang saluran pria :epididimis.SRY + S0X9 Menginduksi testis FGF9Tubulus dari ductus mesonefros menembus gonadal ridge SRY SF1DIF.

bawah .Congenital abnormalities ON WOMEN Wnt4: ovarian determinant genes DAX1  inhibit the function of Sox9 estrogen: 1. upper vagina 2.dif.pada genitalia stage indifference: the labia majora. uterine cervix. minora. Working for eks. uterus.ductus miliary: uterine tubes. clitoris and vagina bagi.

kelainan ini tidak diketahui sebelum menarkhe .Himen yang tidak menunjukan lubang sama sekali .miolimina menstrual dialami setiap bulan tetapi darah haid tidak keluar darah terkumpul dalam vaginahimen tampak kebirubiruan dan menonjol keluar hematokolaps apabila dibiarkan uterus terisi darah (hematometra)mengisi tuba ki-kadapat teraba di ki-ka atas simpisis .Genitalia eksterna 1.HIMEN IMPERTORATUS .

treatment Himenektomi: thick dark blackish blood should come out after the act of victimization of people laid Fowler 2-3 days .

which causes disturbances in the fusion / konalisasi both ductal mulleri . was not uncommon to abnormalities in the uterus. Bulkhead sagittal in the vagina can be found at the top of the vagina . abnormal menstrual blood . discovered in gynecologic examination .Septum vagina . in labor spontaneously torn septum can / need to be sliced ​and tied . on his general do not cause complaints in question.Genitalia interna 1.

TURNER SYNDROM Turner syndrom is genetic disorder charaterizid by physical of features and complete or parsial absence of the second sex chromosom .

• Incident 1:2000-2500 live female birth Clinical features : reduced growth ovarian disgenesis infertilitas .

osteoporosis .• Karyotipe vs genotip vs venotipe Karyotipe :khromosomal pattern Genotipe : entire genetic constitution Phenotipe : physical and phisicological make up e.infertilty.g short stature.




















22 Desmolase deficiency .It is a familial disorder of adrenal steroid biosynthesis with autosomal recessive mode of inheritance.What is CAH 1. 2.5 major Enzymes deficiency are clinically important • • • • • 21-Hydroxylase 11-b-Hydroxylase 17-a-Hydroxylase 3-b-Hsteroid hydrogenese 20. 3.The defect is expressed as adrenal enzyme deficiency.

CAH The enzyme deficiency causes reduction in end-products. accumulation of hormone precursors & increased ACTH production. The clinical picture reflects the effects of inadequate production of cortisol & aldosterone and the increased production of androgens & steroid metabolites. .

 Gene is located on the short arm of chromosome 6 near the C4 locus in close association with HLA genes. .  Heterozygous carriers can be detected by ACTH stimulation test.  Incidence is 1:5000 to 1:15000 live birth.21-Hydroxylase Deficiency  Most common type. accounts for >80% of cases.

It is characterized by reduced production of cortisol and aldosterone and increased production of progesterone. The urinary steroid metabolites (17ketosteroids and pregnanetriol) are elevated above normal levels. and sex steroids. . 17-OHprogesterone.

. The excess androgens causes virilization of girls & ambiguous genitalia & dark scrotum in boys. In partial enzyme deficiencies.Decreased secretion of aldosterone results in salt loss with hyponatremia and hyperkalemia. plasma renin activity is therefore elevated. the aldosterone deficiency is not expressed. and patients remain normonatremic and normokalemic.

classic early virilization type with or without salt-losing crisis and non-classic type with late-onset virilization.2 forms. . Male babies with non salt-losing non-classic type remains asymptomatic till late childhood when they may show signs of sexual precocity.

the disorder may be due to allelic variations of the same enzyme. .Because members of the same family may have classic. non-classic & asymptomatic forms. Mass neonatal screening using filter paper blood sample for 17-OH-Progesterone is used in the USA.

 Because of the strong mineralocorticoid activity of deoxycorticosterone.  The elevated plasma androgens may cause virilization of the female fetus. the condition is characterized by salt retention. .  It is characterized by low plasma renin activity & elevation of serum 11-Deoxycortisol and 11deoxycorticosterone.  Gene is located on the long arm of chromosome 8. hypertension & hypokalemic alkalosis.11-b-Hydroxylase Deficiency  Accounts for 5-10% of cases of CAH.

ESSENTAILS OF DIAGNOSIS Increased linear growth with advanced bone age and eventual short stature Pseudohermaphorditism in girls due to androgen virilizing effect Isosexual precocity in boys with small infantile testes .

g. Low cortisol with high androgens. ACTH and steroid precursors e. or 11Deoxycortisol .Adrenal crisis with salt-loss & metabolic acidosis or Hypertension & hypokalemic alkalosis. 17-OH-Progest.

Cortisol. . hypoglycemia or  BP.Diagnosis is confirmed by measurement of ACTH. 17-OHprogesterone. Needs alertness for the possibility in all babies with Diarrhea & Vomiting. Testosterone & urinary 17ketosteroids. Aldosterone.

Approximately 50% of patients with classic congenital adrenal hyperplasia due to 21hydroxylase (CYP21) deficiency have salt wasting due to inadequate aldosterone synthesis. .CLINICAL COURSE The clinical phenotype depends upon the nature and severity of the enzyme deficiency. Girls are usually recognized at birth because of ambiguous genitalia.

often accompanied by accelerated growth and advanced bone age.Non salt losing CAH present late in childhood with precocious pubic hair and/or clitoromegaly. . Those individuals with mild deficiencies of the enzyme present in adolescence or adulthood with varying virilizing symptoms ranging from oligomenorrhea to hirsutism and infertility.

clitoromegaly and partial fusion of the labioscrotal folds In less severe forms. often accompanied by tall stature. . genitalia is normal at birth. Precocious pubic hair & clitoromegaly and excess facial or body hair appear later in childhood.GIRLS WITH CAH Have ambiguous genitalia at birth: complete fusion of the labioscrotal folds and a phallic urethra.

BOYS WITH CAH Are unrecognized at birth because their genitalia are normal. hyponatremia and hyperkalemia or later in childhood with early pubic hair & phallic enlargement accompanied by accelerated linear growth and advancement of skeletal maturation. hypotension. High blood pressure & hypokalemia may occur in those with 11-b-hydroxylase deficiency and 17-ahydroxylase deficiency due to the accumulation of the mineralocorticoid desoxycorticosterone . often with a salt wasting crisis resulting in dehydration. They are not diagnosed until later.

. very high serum 17-hydroxyprogesterone is characteristic together with very high urinary pregnanetriol (metabolite of 17-hydroxyprogesterone).  In 21-hydroxylase deficiency.Laboratory Findings  demonstration of inadequate production of cortisol and/or aldosterone in the presence of accumulation of excess concentrations of precursor hormones is diagnostic.

hyperkalemia and elevated plasma renin activity indicating hypovolemia.Salt wasting forms of adrenal hyperplasia are accompanied by low serum aldosterone. In contrast hypertensive forms of adrenal hyperplasia (11-b-hydroxylase deficiency and 17a-hydroxylase deficiency) are associated with suppressed plasma renin activity and hypokalemia. . hyponatremia.

.Imaging studies • A pelvic ultrasound: in the infant with ambiguous genitalia to demonstrate the presence or absence of a uterus or associated renal anomalies • A urogenitogram is often helpful to define the anatomy of the internal genitalia. • A CT scan of the adrenal gland to R/O bilateral adrenal hemorrhage in the patient with signs of acute adrenal failure • A bone age study is useful in the evaluation of the child who develops precocious pubic hair. or accelerated linear growth. clitoromegaly.

Mineralocorticoid replacement may be needed to sustain normal electrolyte homeostasis.  to normalize electrolytes & hormone levels using the smallest dose of glucocorticoids that will suppress the ACTH to normal.TREATMENT PRINCIPLES Treatment is life-long Treatment goals are: to maintain growth velocity & skeletal maturation. .

MODES OF TREATMENT Steroid replacement Supportive therapy when needed Treatment is life-long Plastic surgery for ambiguous genitalia at early age Genetic counseling Psychological support .

1:64000 The existence of peripheral resistance (target cells) caused by mutations in the androgen receptor gene androgen .46XY DSD Common causes: androgen insensitivity syndrome (AIS) Incident: 1:20000 .

muller distressed .SIK complete phenotype perfect man diagnosed at puberty: amenorrhoea prepubertal: herniafemoralis san femoral normal or elevated testosterone levels with fixed internal genitalia laki2 because IMH remained secreted by the testes  wolfii developing.Klasifikasi SIA complete and incomplete a.

SIAP (partial) ambiguous genital .b.

clinical would be normal to the man.Alfa Defisiensis reductase 1.bersifat autosomal recessive disorder that conversion of testosterone into DHT DHT is reduced resulting in virilization of the external genitalia is not perfect Clinical 2. ambiguous genital virilization during prepubertal  great in adolescence to become men .

skrotum bifida with or without kriptokrismus .3. hypospadias posterior.Baby or child: chordae small phallus.

riwayat virilisasi pada saat pubertas 4.riwayat kehamilan :paparan androgen obat2 tertentu .diagnostic approach a.riwayat kematian neonatal dini yan tidak jelas akibat muntah muntah dengan atau tanpa genital ambigu 3.Anamnesis 1.riwayat serupa didalam keluarga 2.riwayat infertilitas dalam keluarga 5.

turner) mental retardation mikrosefal hipertesi. physical examination General condition: failure to thrive (HAK. hyperpigmentation .b.

external genitalia 1.two gonand palpable and symmetric men who did not experience adequate virilization mulirent regression dd: prod.testosteron inadekuat. def.Gonad a.c. minimal testicular dysplasia .5 alpha reductase.

gonad no palpable gonads and duct condition unknown .Asimetris palpable gonad with only one gonad there are at least one of his testicles that may ovary. ovotestis c.b.

Phallus Mikopenis: <2 cm clitoris> 1cm  klitoromegali 3.Ofricium urethral offricium urethra and vaginal introitus clearly separated: 46 XX indication if there is one hole in the external genitalia: 46 XY indication .2.

• DIAGNOSIS SUPPORT 1.Analisis chromosome The first step when faced with cases of ambiguous genitalia / DSD using 20% metaphase possible long mosaic hasi examination 3 weeks .

imaging Pelvic Ultrasound: strutur duct mulleri testis in the inguinal region adrenal hyperplasia genitogram: detecting internal genitalia urogenital sinus .

ensure maximum functionality sexual 3.To ensure as much as possible fertility or reproductive 2.ensure compliance outcomes phenotype and the type of psychosocial specified sex .Procedures Objective: 1.

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