ESPE Abstracts

Background: CPP is commonly treated with triptorelin, a gonadotropin-releasing hormone (GnRH) analogue. It is available as 1-month and 3-month prolonged-release (PR) formulations, but only the former is approved for CPP in China. Overseas studies have proved the efficacy and safety of triptorelin 3-month PR formulation; this study evaluated efficacy and safety in Chinese children with CPP.Methods: In this 12-month, open-...

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

Background: Primary amenorrhoea is a rare condition characterised by absent menarche. Based on gonadotropin levels, we distinguish hyper from hypogonadotropic hypogonadism forms.Objective and hypotheses: Herein, we present a case of primary amenorrhea with hypergonadotropic hypogonadism and glomerulopathy.Method: A 27-year-old female presented for evaluation of primary amenorrhea and incomplete pubertal development. Her past medica...

Background: The hepatokine FGF21 signals through a dual receptor complex consisting of FGFR1c and the obligatory co-receptor β-Klotho to regulate glucose and lipid metabolism. Interestingly, female mice with Fgf21 transgenic overexpression are not only resistant to high-fat diet induced obesity but also present with hypogonadotropic hypogonadism (HH) and infertility. Loss-of-function (LOF) mutations in FGFR1 are a frequent cause of congenital HH (CHH). W...

Introduction: Differentiation between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) during early adolescence is challenging, as patients exhibit a similar clinical picture and there are no definite clinical or biochemical markers that distinguish these 2 pathologies. A delay in diagnosis, especially for CHH, may have short and long-term health consequences. The aims of this study were: 1) To evaluate the u...