7

17
2
3





3.1 . 2




Physical examination
Vital signs : BT 37 c, PR 160/min, BP 70/50 mmHg, RR 60/min

General appearance : A Thai infant, acutely ill, marked dehydrated

HEENT : anterior fontanelle depressed, sunken eyeballs, not pale,
dry lip and buccal mucosa

Genitalia : ambiguous genitallis with phallus of 1.5x2 cm,
hyperpigmented labioscrotal folds, posterior labial fusion, no
gonad palpable

Skin : generalized hyperpigmentation, marked hyperpigmentation
at areolar, axilla and genitalis
Laboratory
CBC : Hb 10.4 gm/dl, Hct 39%, WBC 5,937
cell.cu.mm., PMN 34%, L 64%, M 11%

Electrolyte : Na 118 ,K 6.4, Cl 77, CO2 16
mmol/L, BS 40 mg%, serum cortisol 5 mcg/dL

Chromosome study 46,XX
1.
Vomiting
Diarrhea
Fatigue
Oliguria

Anterior frontanelle
depressed,sunken eye
balls, dry lips
Ambiguous genitalia with
phallus
Generalized
hyperpigmentation,
marked at areolar, axilla
and genitalia
Hyponatremia
Hyperkalemia
Low Serum cortisol
+/- hypoglycemia
Pertinent subjective Pertinent objective
Problem lists
1. Adrenal crisis [severe hyponatremia and
hyperkalemia,acidosis,low serum cortisol]
2. Vomiting and diarrhea with moderate to
severe dehydration
3. Ambiguous genitalia with phallus [XX DSD]
4. Generalized hyperpigmentation
5. +/- hypoglycemia


ambiguous genitallia with phallus of
1.5x2 cm
hyperpigmented labioscrotal folds
posterior labial fusion
no gonad palpable


Ambiguous genitalia
gonad 2
underviirilized male
gonad 2
gonad
True hermaphoditism
Mixed gonadal dysgenesis
gonad 2
Congenital adrenal hyperplasia
Placental aromatase deficiency
Exogenous androgen expose
SRY translocation
SOX-9 duplication
Provisional diagnosis
Congenital adrenal hyperplasia due to 21-
hydroxylase deficiency


2.
Immediate action
Send blood for serum progesterone, 17-OHP [greater than
3500 ng/dL (105 nmol/L)], testosterone

Start NSS 20 ml/kg IV drip in 30 minutes and give hydrocortisone
25 mg IV bolus stat

Run an EKG [tall peaked T wave with shortened QT interval, followed by progressive
lengthening of the PR interval and QRS duration]

Then Hydrocortisone 100 mg/m2/day divided into /every 6 hours

5%D/NSS (MT+10%deficit)

During treatment with stress doses of hydrocortisone,
mineralocorticoid replacement is unnecessary.
BSA = sqr(Height *
Weight / 3600)
17 OHP
In children, a morning basal 17-hydroxyprogesterone value greater
than 82 ng/dL (2.5 nmol/L) strongly suggests the diagnosis of
nonclassic congenital adrenal hyperplasia (NCCAH).

Based upon available data, corticotropin (ACTH) stimulation testing
is not necessary in children with a basal 17-hydroxyprogesterone
either less than 82 ng/dL (2.5 nmol/L) or greater than
200 ng/dL (6 nmol/L).

However, follow-up ACTH stimulation testing should be performed
in children whose baseline values fall between 82 and
200 ng/dL (2.5 to 6 nmol/L).

Management
Medications and dosing
A typical starting dose of hydrocortisone is 20 to
30 mg/m2/day divided thrice daily (ie, 2.5 mg three
times a day)
fludrocortisone 100 mcg twice daily
one gram or 4 mEq/kg/day of sodium chloride divided
in several feedings.
Laboratory assessment should be performed no more
than 10 to 14 days after starting treatment.
Repeat blood sampling and blood pressure monitoring
at least monthly during the first three months of life.
Ambiguous genitalia
Infants with ambiguous genitalia require urgent
medical attention.
Girls with classic CAH typically undergo
reconstructive surgery, usually clitoroplasty and
vaginoplasty [The initial evaluation should include history,
physical examination, pelvic ultrasonography to evaluate internal
genitalia (uterus) and possibly adrenals, karyotype or fluorescence in
situ hybridization (FISH) for sex chromosome (SRY probe) material (if
not available from prenatal testing), and rapid and reliable
measurement of 17-hydroxyprogesterone and serum electrolytes.]
Family coping The birth of an infant with
ambiguous genitalia is a psychosocial
emergency for the family.
An appropriate therapeutic plan can be
developed only with the full participation of the
parents, after a careful and complete evaluation by
an experienced team of endocrinologists,
geneticists, and surgeons, aided by individuals
capable of sophisticated psychosocial support.