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1.

3 beta-Hydroxysteroid dehydrogenase deficiency

Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992). [from OMIM]

MedGen UID:
452446
Concept ID:
C0342471
Disease or Syndrome
2.

Impaired cortisol response to corticotropin releasing hormone stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. [from HPO]

MedGen UID:
1378460
Concept ID:
C4476957
Finding

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