Article
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Endocrine journal - 28 Jul 2022
Sugisawa Chiho, Taniyama Matsuo, Sato Takeshi, Takahashi Yasuyoshi, Hasegawa Tomonobu, Narumi Satoshi
Abstract excerpt
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that causes gonadotropin-releasing hormone (GnRH) deficiency and sexual immaturity. CHH may accompany an abnormal sense of smell (Kallmann syndrome, KS) or no such manifestation (normosmic-CHH). This unusual combination of manifestations is explained by the fact that GnRH neurons originate in the olfactory placode and migrate to the forebrain...
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