Familial adrenal hypoplasia with absent pituitary luteinizing hormone

MedGen UID:: 348510
•Concept ID:: C1859978
•: Disease or Syndrome

Synonym:	Adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone
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)

Monarch Initiative:	MONDO:0008731
OMIM®:	202150
Orphanet:	ORPHA95700

Definition

Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. [from ORDO]

Clinical features

From HPO

Cryptorchidism

MedGen UID:: 8192
•Concept ID:: C0010417
•: Congenital Abnormality

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

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Micropenis

MedGen UID:: 1633603
•Concept ID:: C4551492
•: Congenital Abnormality

Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

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Congenital adrenal hypoplasia