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Familial adrenal hypoplasia with absent pituitary luteinizing hormone

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
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).
Monarch Initiative: MONDO:0008731
OMIM®: 202150
Orphanet: ORPHA95700


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
MedGen UID:
Concept ID:
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).
MedGen UID:
Concept ID:
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.
Congenital adrenal hypoplasia
MedGen UID:
Concept ID:
Congenital Abnormality
A type of adrenal hypoplasia with congenital onset.
Decreased circulating luteinizing hormone level
MedGen UID:
Concept ID:
A reduction in the circulating level of luteinizing hormone (LH).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial adrenal hypoplasia with absent pituitary luteinizing hormone
Follow this link to review classifications for Familial adrenal hypoplasia with absent pituitary luteinizing hormone in Orphanet.

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