Article
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
European journal of endocrinology - 8 Oct 2021
Saengkaew Tansit, Patel Heena R, Banerjee Kausik, Butler Gary, Dattani Mehul T, McGuigan Michael, Storr Helen L, Willemsen Ruben H, Dunkel Leo, Howard Sasha R
Abstract excerpt
CONTEXT: Pubertal delay can be the clinical presentation of both idiopathic hypogonadotropic hypogonadism (IHH) and self-limited delayed puberty (SLDP). Distinction between these conditions is a common but important diagnostic challenge in adolescents. OBJECTIVE: To assess whether gene panel testing can assist with clinical differential diagnosis and to allow accurate and timely management of delayed puberty...
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