Article
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
The Journal of clinical endocrinology and metabolism - 1 Jun 2001
Costa E M, Bedecarrats G Y, Mendonca B B, Arnhold I J, Kaiser U B, Latronico A C
Abstract excerpt
Several point mutations in the GnRH receptor gene have been described in an autosomal recessive form of congenital isolated hypogonadotropic hypogonadism (HH). We investigated 17 Brazilian patients (10 males and 7 females) from 14 different families, with HH and normal olfaction. The diagnosis of HH was based on absent or incomplete sexual development after 17 yr of age associated with low or normal levels of LH...
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