hrp0092p2-245 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Etiological Structure Disorders of Sex Development 46,XY By One Center

Sannikova Ekate , Samsonova Lubov , Latyshev Oleg , Kiseleva Elena , Okminyan Goar , Kasatkina Elvira , Dondup Olga , Okulov Alexey , Tulpakov Anatoliy

Objective: To study structure disorders of sex development (DSD) 46,XY by one center.Subjects and Methods: It was included 60 patients with diagnosis DSD 46,XY at birth to 18 years. For all patients was conducted structural evaluation of the external (by External Masculinization Score, EMS, 0-12) and internal genitalia (by pelvic ultrasound, n=60, laparoscopy, n=20), hormonal research (testoster...

hrp0095p1-377 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Novel genomic variants, atypical phenotypes and evidence of a digenic/oligogenic contribution to Disorders/Difference of Sex Development in a large north African cohort.

Zidoune Housna , Ladjouze Asmahane , Chellat-Rezgoune Djalila , Boukri Asma , Aman Dib Scheher , Tebibel Meryem , Sifi Karima , Abadi Noureddine , Satta Dalila , Benelmadani Yasmina , Bignon-Topalovic Joelle , Bashamboo Anu , McElreavey Ken

The majority of individuals with disorders/differences of sex development (DSD) do not have a genetic etiology. However, recently new genes causing DSD have been reported and using the unbiased approach of whole exome sequencing (WES) the diagnostic yield should be improving. Here, we performed WES on a large cohort of 125 individuals all of Algerian origin, who presented with a wide range of DSD phenotypes. Parental consanguinity was reported in 36% of individuals. The geneti...

hrp0095p1-439 | Diabetes and Insulin | ESPE2022

Deciphering Monogenic Diabetes Mellitus in Spanish Pediatric Patients: A Cross-Sectional Study

Gomes Porras Mariana , Coral Barreda Bonis Ana , Salamanca Fresno Luis , González Casado Isabel , Campos Barros Ángel

Background and aims: The introduction of next-generation sequencing (NGS) as an essential tool for the routine molecular diagnosis of DM has highlighted the under-diagnosis of monogenic diabetes mellitus (MonDM). Accurate molecular diagnosis of the MonDM subtype has important implications for prognosis and choice of treatment, family counseling and health management, enabling precision medicine. The main objective was to clinically and molecularly characterize...

hrp0095p2-263 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Complete Androgen Insensitivity Syndrome: a case report

Soto-Maior Costa Maria , Galhardo Júlia , Anselmo Marisol , Alves Fátima , Kay Teresa , Lopes Lurdes

Background: Loss-of-function mutations of the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS) in 46,XY individuals, causing a disorder of sex development. AIS has a clinical continuum according to the resistance severity, being classified into three main categories: complete (CAIS), partial (PAIS), and mild (MAIS). The authors present a female phenotype patient with CAIS.Case Report: An otherw...

hrp0092p1-42 | Fat, Metabolism and Obesity | ESPE2019

De-novo and Depot-Specific Androgen Production in Human Adipose Tissue - a Source of Hyperandrogenism in Obese Females

Wagner Isabel Viola , Sahlin Lena , Kulle Alexandra , Klöting Nora , Döbeln Viola , Savchuk Iuliia , Dötsch Jörg , Söder Olle

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism but the role of adipose tissue (AT) in androgen synthesis remains unclear.Aims/Objectives: Employing human subcutaneous and visceral AT and cultured adipocytes, we studied whether AT could be a source of androgens promoting hyperandrogenism in lean and especially in obese females.Methods</st...

hrp0084p2-307 | DSD | ESPE2015

Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD

Kyriakou Andreas , Dessens Arianne B , Bryce Jillian , Haraldsen Ira , Iotova Violeta , Juul Anders , Krawczynski Maciej , Nordenskjold Agneta , Rozas Marta , Sanders Caroline , Hiort Olaf , Ahmed S Faisal

Background: The approach to investigating a newborn with a suspected DSD is likely to vary between centres and may be influenced by local availability.Method: To explore the current diagnostic practice and needs, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.Results: A total of 77/124 (62%) clinicians, in 74 centres, from 38/42 (91%) countries res...

hrp0097p1-173 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome

Loch Batista Rafael , Coelho Fernando , Craveiro Flora , Dallago Renata , Domenice Sorahia , Viana Publio , Dantas Patricia , Carvalho Filomena , Mendonca Berenice

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals harboring pathogenic allelic variants in the AR gene. Due to growing evidence regarding the low risk of germ cell tumors (GCT) in AIS. Prophylactic gonadectomy has been debatable in the CAIS management, mainly due to the absence of an accurate biomarker for GCT....

hrp0097p1-583 | Thyroid | ESPE2023

Was newborn screening for congenital hypothyroidism affected by COVID19 lockdown?

Vitale Laura , Esposito Mariela , Francesca Jesica , Victoria Fasano María , Balbi Viviana , Tournier Andrea , Borrajo Gustavo , González Verónica , Morín Analía

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

hrp0098fc8.4 | Adrenals and HPA Axis 2 | ESPE2024

A deep intronic splice variant of CYP11B1 is the most common in Caucasian patients with 11-beta hydroxylase deficiency: functional, clinical and hormonal findings in 36 families

Janot Clément , Mallet Delphine , Brac-De-La-Perrière Aude , Bertherat Jérôme , Brioude Frédéric , Cartault Audrey , Daval-Cote Mélanie , Espiard Stéphanie , Houang Muriel , Lefebvre Hervé , Martinerie Laetitia , Mayer Anne , Mazoyer Harmony , Pienkowski Catherine , Ribault Virginie , Morel Yves , Plotton Ingrid , Roucher-Boulez Florence

Background and Aims: Congenital adrenal hyperplasia (CAH) resulting from 11β-hydroxylase deficiency (11OHD) is a rare autosomal recessive (AR) disorder due to mutations in CYP11B1. Consequences are decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors causing abnormally high androgen synthesis and hypertension. High levels of 11-desoxycortisol provides diagnosis with certainty. However, in a cohort o...

hrp0098p2-255 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Exploring the Clinical Implications of a LARS2 Gene Mutation in a Female Adolescent with Perrault Syndrome

Yang Tong , Ferreira Madalena , Sousa Filomena , Amorim Marta , Lopes Lurdes , Galhardo Júlia

Introduction: Perrault syndrome is a rare autosomal recessive (AR) disorder (<1:1.000.000). Mutations in several genes, including HSD17B4, HARS2, CLPP, LARS2, TWNK, and ERAL1 have been associated with it, reflecting the genetic and clinical heterogeneity of this condition. It is characterized by bilateral mild to severe sensorineural hearing loss (SNHL) in both sexes and gonadal dysgenesis in 46,XX karyotype females. Ovarian dysfunction ranges from underdev...