Isolated lutropin deficiency

Common Name(s)

Isolated lutropin deficiency

Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by {4:Basciani et al., 2012}). For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see {147950}. Reviews {2:Arnhold et al. (2009)} noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see {238320}): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG; {118860}) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.
 

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Condition Specific Organizations

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Scientific Literature

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