Article
FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia.
The Journal of clinical endocrinology and metabolism - 1 Aug 2002
Layman Lawrence C, Porto Adriana L A, Xie Jun, da Motta Luiz Augusto Casulari Roxo, da Motta Lucilia Domingues Casulari, Weiser Weishui, Sluss Patrick M
Abstract excerpt
FSH is a dimeric pituitary glycoprotein hormone that regulates gonadal function. Human mutations in the FSH beta gene have been shown to produce complete deficiency states in which pubertal development and reproductive capacity are inhibited. To date, no patients with partial or complete pubertal development due to FSH beta mutations have been documented in humans. We describe and characterize affected siblings,...
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