Article
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies.
The Journal of clinical endocrinology and metabolism - 1 Aug 2003
Meduri G, Touraine P, Beau I, Lahuna O, Desroches A, Vacher-Lavenu M C, Kuttenn F, Misrahi M
Abstract excerpt
Inactivating mutations of the FSH receptor have been described in rare cases of premature ovarian failure. Only one mutation was associated with a complete phenotype, including delayed puberty, primary amenorrhea, and small ovaries. We describe here a new patient presenting a similar complete phe...
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