Kallmans syndrome is associated with all of the following except-
Correct Answer: excess stimulation of the HPO axis
Description: Ans. is 'b' i.e., excess stimulation of the HPO axis Kallmann's Syndrome:o When congenital GnRH deficiency is associated with anosmia or hyposmia (an absent or grossly impaired sense of smell), the disorder is known as Kallmann's syndrome.o Two genetic mutations associated with Kallman's Syndrome :a) KAL gene - X - linked inheritance (Xp22[?]3) encoding anosmin - 1.b) Gene encoding FGFR1 (Fibroblast growth factor - 1 receptor) - autosomal dominant form.o Anosmin - 1 is a neural adhesion molecule that promotes migration of GnRH neurons and olfactory neurons, from the olfactory placode into the hypothalamus during embryonic developmento At puberty, both males and females with Kallmann's syndrome usually present with delayed growth and sexual development.o The presence of pubic hair, reflecting a normal adrenarche, helps to distinguish them from those with a constitutional delay of puberty in whom adrenarche typically also is delayedo The disorder is also associated with cleft lip/palate, urogenital tract anomalies, or syndactyly.
Category:
Gynaecology & Obstetrics
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