Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039483 (giant cell arteritis)
 3,204 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypogonadism has traditionally been classified as either hypogonadotropic or hypergonadotropic based on serum gonadotropin levels. However, when hypothalamic suppression of GnRH secretion occurs, it can mask an underlying hypergonadotropic state. In this report we document the unusual case of a 61-yr-old man with androgen insensitivity and coincidental functional hypogonadotropic hypogonadism (HH). Although functional HH is not a well-recognized entity in the male, major stress has been reported to cause transient suppression of the hypothalamic-pituitary-gonadal axis in men. The patient in question was noted to have undervirilization, minimal pubertal development, hypogonadal testosterone, and low gonadotropin levels consistent with congenital HH during a hospital admission for myocardial infarction. However, the patient had also had surgery for hypospadias, a clinical feature not typically part of the phenotypic spectrum of congenital HH. We therefore hypothesized that the combination of acute stress and chronic glucocorticoid administration for temporal arteritis induced transient HH in a patient with a disorder of sexual differentiation in whom gonadotropin levels would have otherwise been elevated. Using clinical, molecular, and genetic studies, the patient was found to have partial androgen insensitivity syndrome (PAIS) caused by a novel mutation (Ser(740)Cys) in the ligand-binding domain of the androgen receptor. Subsequent studies of the patient confirmed the characteristic gonadotropin and sex steroid abnormalities of PAIS. We describe for the first time a patient with PAIS presenting with a reversible hypogonadotropic biochemical profile triggered by an acute illness and corticosteroid therapy. This case highlights the necessity for caution when interpreting gonadotropin levels during acute stress.
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PMID:Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor. 1500 85

Kisspeptin (KISS1) and its receptor (KISS1R) are important regulators of the reproductive function, along with gonadoliberin (GnRH), gonadotropins (luteinizing hormone (LH) and follicle-stimulating hormone (FSH)), and sex steroid hormones. Mutations of their genes alter sexual maturation. The p.P74S, p.H90D, and p.P110T missense mutations of KISS1 are associated with central precocious puberty (CPP); and the p.G35S, p.C53R, and p.F117L mutations, with delayed puberty and isolated hypogonadotropic hypogonadism (IHH). The p.P196H and p.R386P mutations of KISS1R are also associated with CPP. However, a greater number of KISS1R mutations are associated with IHH, as is the case with p.L102P, p.L148S, p.E232Q, p.R297L, p.Y313H, pX399R, and more complex mutations, such as the 155-bp deletion that removes the acceptor splice site of intron 4 and part of exon 5, a deletion of the GCA triplet in position-2 ...-4 of intron 2, and an ACCGGCT insertion in the same site. The heterozygous compound mutations p.C223R/p.R297L and p.R331X/X399R and the 1-bp insertion 1001_1002insC of KISS1R are similarly associated with IHH. Leptin-dependent activation of KISS1 in hypothalamic neurons was observed in mice and sheep, being especially evident after puberty. Leptin exerts a permissive effect in regulating fertility and facilitate the induction of puberty by hypothalamic KISS1 and GnRH and pituitary LH and FSH, which support the reproductive function during further life.
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PMID:[Kisspeptin and leptin in the regulation of fertility]. 2651 May 89