Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002453 (
amenorrhea
)
6,245
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The
luteinizing hormone receptor
(
LHR
) plays a critical role in reproductive physiology in both males and females. Naturally occurring mutations in this receptor can cause genetically transmitted disorders by producing either gain or loss of receptor function. The clinical phenotype of the heterozygous activating mutations of the
LHR
gene has been exclusively described in males, who present familial or sporadic pseudoprecocious puberty. Affected boys were usually fertile at an adult age. In contrast, homozygous inactivating mutations of the
LHR
gene can cause a distinct spectrum of phenotypes. Severe inactivating mutations of the
LHR
have been recognized as the cause of Leydig cell hypoplasia, a rare form of male pseudohermaphroditism, in genetic males and as a novel cause of
amenorrhea
and infertility in genetic females. In addition, inactivating mutations that partially inactivate LH signaling can cause micropenis, sometimes accompanied by hypospadias and cryptorchidism. Both males and females with homozygous inactivating mutations of the
LHR
gene have suppression of fertility, which can represent the chief complaint of these patients.
...
PMID:Naturally occurring mutations of the luteinizing hormone receptor gene affecting reproduction. 1129 16
