Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
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DOI: 10.1507/endocrj.ej21-0779
Abstract: 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… read more here.
Keywords: biallelic prokr2; prokr2; chh; prokr2 variants ... See more keywords