Congenital lipoid adrenal hyperplasia due to STAR deficency(LCAH)

MedGen UID:: 83341
•Concept ID:: C0342474
•: Disease or Syndrome

Synonyms:	ADRENAL HYPERPLASIA I; Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia; Cholesterol monooxygenase (side-chain cleaving) deficiency; Congenital lipoid adrenal hyperplasia; Lipoid adrenal hyperplasia; Lipoid CAH; Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
SNOMED CT:	Defective synthesis of cholesterol desmolase (44231009); Cholesterol monooxygenase (side-chain cleaving) deficiency (44231009); Cholesterol desmolase deficiency (44231009); 20,22-Desmolase deficiency (44231009); Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism (44231009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	STAR (8p11.23)

Monarch Initiative:	MONDO:0008725
OMIM®:	201710
Orphanet:	ORPHA90790

Definition

Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996). [from OMIM]

Clinical features

From HPO

Hypospadias

MedGen UID:: 163083
•Concept ID:: C0848558
•: Congenital Abnormality

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.

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Renal salt wasting

MedGen UID:: 375868
•Concept ID:: C1846347
•: Finding

A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).

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Congenital adrenal hyperplasia

MedGen UID:: 7900
•Concept ID:: C0001627
•: Disease or Syndrome

A type of adrenal hyperplasia with congenital onset.

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Adrenogenital syndrome

MedGen UID:: 86215
•Concept ID:: C0302280
•: Disease or Syndrome

Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.

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