Article
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
The Journal of clinical endocrinology and metabolism - 1 Sept 2018
Howard Sasha R, Oleari Roberto, Poliandri Ariel, Chantzara Vasiliki, Fantin Alessandro, Ruiz-Babot Gerard, Metherell Louise A, Cabrera Claudia P, Barnes Michael R, Wehkalampi Karoliina, Guasti Leonardo, Ruhrberg Christiana, Cariboni Anna, Dunkel Leo
Abstract excerpt
Context: Self-limited delayed puberty (DP) segregates in an autosomal-dominant pattern, but the genetic basis is largely unknown. Although DP is sometimes seen in relatives of patients with hypogonadotropic hypogonadism (HH), mutations in genes known to cause HH that segregate with the trait of familial self-limited DP have not yet been identified. Objective: To assess the contribution of mutations in genes known...
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