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Ambiguous Genitalia

CAH is the m/c cause of ambiguous genitalia

 

TABLE -- Diagnosis and Treatment of Congenital Adrenal Hyperplasia
 

DISORDER

AFFECTED GENE AND CHROMOSOME

SIGNS AND SYMPTOMS

LABORATORY FINDINGS

THERAPEUTIC MEASURES

21-Hydroxylase deficiency, classical form

 

 

 

 

 

CYP21

6p21.3

 

 

 

 

Glucocorticoid deficiency

 

Mineralocorticoid deficiency (salt-wasting crisis)

 

Female pseudohermaphroditism

Postnatal virilization in males and females

Cortisol, ACTH

↑↑ Baseline and ACTH-stimulated 17-hydroxy-progesterone

Hyponatremia, hyperkalemia

Plasma renin

Serum androgens

 

Glucocorticoid (hydrocortisone) replacement

 

Mineralocorticoid (fludrocortisone) replacement; sodium chloride supplementation

 

Vaginoplasty and clitoral recession

Suppression with glucocorticoids

11β-Hydroxylase deficiency

 

 

 

 

CYP11B1

8q24.3

 

 

 

Glucocorticoid deficiency

 

Female pseudohermaphroditism

Postnatal virilization in males and females

Hypertension

Cortisol, ACTH

↑↑ Baseline and ACTH-stimulated 11-deoxycortisol and deoxycorticosterone

Serum androgens

Plasma renin, hypokalemia

Glucocorticoid (hydrocortisone) administration

 

Vaginoplasty and clitoral recession

Suppression with glucocorticoids

Suppression with glucocorticoids

3β-Hydroxysteroid dehydrogenase deficiency, classical

 

Form

 

 

 

HSD3B2

1p13.1

 

 

 

 

Glucocorticoid deficiency

 

Mineralocorticoid deficiency (salt-wasting crisis)

 

Male and female pseudohermaphroditism

Precocious adrenarche, disordered puberty

Cortisol, ACTH

↑↑ Baseline and ACTH-stimulated δ5 steroids (pregnenolone, 17-OH pregnenolone, DHEA)

Hyponatremia, hyperkalemia

Plasma renin

DHEA, androstenedione, testosterone, and estradiol

 

Glucocorticoid (hydrocortisone) replacement

 

Mineralocorticoid (fludrocortisone) replacement; sodium chloride supplementation

 

Surgical correction of genitals and sex hormone replacement as necessary consonant with sex of rearing

Suppression with glucocorticoids

17α-Hydroxylase/17, 20-lyase deficiency

 

 

 

 

CYP17

10q24.3

 

 

 

Cortisol deficiency (corticosterone is an adequate glucocorticoid)

 

Male pseudohermaphroditism

Sexual infantilism

Hypertension

Cortisol, ACTH

DOC, corticosterone response to ACTH Low 17α-hydroxylated steroids; poor

Serum androgens; poor response to hCG

Plasma renin; hypokalemia

Glucocorticoid (hydrocortisone) administration

 

Orchidopexy or removal of intra-abdominal testes; sex hormone replacement consonant with sex of rearing

Sex hormone replacement consonant with sex of rearing

 

 

Deficiency - Discrepancy between the external genitalia and internal gonads.


A. Female pseudohermaphroditism (FPH)

 

Genotype is XX and gonads are ovaries but external genitalia is virilized.

 

Cause

  1. Exposure of fetus to androgens.
  2. Drugs / Arrhenoblastoma
  3. Congenital adrenal hyperplasia
    1. 21-hydroxylase
    2. 11-betahydroxylase

B. Male pseudohermaphroditism

 

Genotype is XY but the external genitalia are incompletely virilized ambiguous or completely female.-

  1. 17-alpha hydroxylase deficiency.
  2. 17-20 lyase deficiency.
  3. 20-22 desmolase deficiency.

Bone age is advanced in CAH**

 

Peripheral blood karyotyping should be done to confirm the pattern of chromosomal anomalies.

 

Other Features

 

21-hydroxylase deficiency may present as salt losing form of CAH due to associated aldosterone deficiency.

 

Na+,   K+

 

Severe vomiting and vascular collapse.

 

11-beta hydroxylase deficiency

 

Accumulation of deoxycortisol (DOC)

 

- these children develop hypertension-

 

Rare Form

 

17-alpha hydroxylase deficiency

  1. There is salt retention
  2. Hypertension and hypokalemia




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