Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Free Communications

Pituitary, neuroendocrinology and puberty 2

hrp0097fc13.1 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes

Rezende Raissa , Schafer Evan , Kaisinger Lena , He Wen , Andrade Nathalia , Dantas Naiara , Cellin Laurana , Quedas Elisangela , Perry John , Howard Sasha , Claudia Latronico Ana , Chan Yee-Ming , Jorge Alexander

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

hrp0097fc13.2 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Targeted gene panel screening in 144 congenital hypopituitarism patients, incorporating 135 known and novel genes implicated in hypopituitarism and/or hypothalamo-pituitary development.

Gregory Louise , Dattani Mehul

Congenital hypopituitarism (CH) is a highly variable disorder affecting 1:3000 - 1:4000 live births, and is characterized by deficiencies in one or more of the 7 pituitary hormones, with growth hormone (GH) being the most frequently-occurring deficiency. It may be associated with a range of syndromic features including visual impairment, midline brain abnormalities and facial clefting. The development of the pituitary gland is closely associated with that of the forebrain and ...

hrp0097fc13.3 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty

E Read Jordan , Guasti Leonardo , Paganoni Alyssa , Korbonits Marta , R Howard Sasha

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without clear a genetic aetiology. Causal genetic variants are reported in imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1), implicating mis-regulation of transcriptional control of the kisspeptin and GnRH neuroendocrine systems in onset of CPP. We recently...

hrp0097fc13.4 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Clinical and molecular genetic characteristics of 98 patients with congenital hypopituitarism: A single-center experience

Yavas Abali Zehra , Arslan Ates Esra , Eltan Mehmet , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Congenital hypopituitarism (CH) refers to a deficiency of one or more pituitary hormones resulting from variants in genes encoding transcription factors for pituitary development. CH cases are mostly sporadic but 5-30% can be familial. Genetic etiology is not determined in most cases. The aim of our study was to evaluate the genetic features of CH using different molecular and/or molecular cytogenetic techniques.Subje...

hrp0097fc13.5 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Systematic review and meta-analysis of spermatogenesis rates after pubertal induction with gonadotropins in males with hypogonadotropic hypogonadism

Alexander Emma , Ng Yin Kyla , Faruqi Duaa , Farquhar Robert , Unadkat Ayesha , Varughese Rachel , Howard Sasha

Background: Hypogonadotropic hypogonadism is characterised by inadequate secretion of gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)) leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but does not facilitate testicular growth and spermatogenesis. Conversely, treatment with gonadotropins or gonadotropin-releasing hormone (GnRH) stimulates Sertoli and Leydig cells...

hrp0097fc13.6 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Effects of Blue Light Exposure and Exposure Duration on Male Rats Puberty Process

KilinÇ Uğurlu Aylin , B&idot;dec&idot; Aysun , Mürşide DEMİREL Ayşe , Take kaplanoğlu Gülnur , dayanir Duygu , Gülbahar Özlem , Saadet Devec&idot; Bulut Tuba , DÖĞer Esra , ÇAmurdan M. Orhun

Purpose: Our study aimed to examine the effects of blue light exposure on prepubertal male rats’ puberty and testis tissue.Methods: Eighteen 21-day-old male Sprague Dawley rats were divided into three groups consisting of six rats in each group: Control Group (CG), Blue Light-6 hours (BL-6), and Blue Light-12 hours (BL-12). CG rats were maintained with 12/12-hour light-dark cycles. The rats of BL-6 and BL-12 were e...