hrp0092ss1.2 | (1) | ESPE2019

E-learning ESPE interactive case

Karem Mona , Drop Stenvert

A 13 months old infant, presented with failure to thrive, untreated congenital hypothyroidism and pseudo-hypertrophy of limb muscles (i.e. Kocher-Debre-Semelaigne syndrome). The child had delayed motor and mental development. Thyroxin replacement therapy, as well as nutritional support, was initiated.Two to three weeks after treatment introduction, the motor and cognitive developments were accelerated with striking improvement as if global growth was sto...

hrp0089p2-p354 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Etiology of Disorders of Sex Development in Kenyan Children and Adolescents

Amolo Prisca , laigong Paul , Omar Anjumanara , Drop Stenvert

Objective: The purpose of this study was to describe baseline data on etiological diagnosis of Disorders of Sex Development (DSD) in Kenyan children and adolescents.Methods: This retrospective study included 71 patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude’s Children’s (GCH) Hospitals.Results: Thirty-nine (54.9%) children ha...

hrp0089p3-p326 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Clinical Presentation and Characteristics of DSD in Kenyan Children and Adolescents

Omar Anjumanara , Amolo Prisca , Laigong Paul , Drop Stenvert

Study Objective: To describe the clinical presentation and characteristics of DSD in Kenyan children and adolescents.Methodology: This retrospective observational study was carried out at Kenyatta National hospital and Gertrude’s Children’s Hospitals involving 71 patients age 0–19 years with DSD enrolled in the clinics between January 2008 to December 2015.Results: The mean age at the time of diagnosis was 2.7 years ...

hrp0086p1-p341 | Gonads & DSD P1 | ESPE2016

Application of on Line Learning in Assessment of Competencies of Fellows Pediatric Endocrinology

Kranenburg Laura , Reerds Sam , Cools Martine , Muscarella Miriam , Grijpink Kalinka , Quigley Charmian , Drop Stenvert

Background: The European Society for Paediatric Endocrinology (ESPE) developed an interactive e-learning portal for pre-and postdoctoral training: (www.espe-elearning.org).Objective and hypotheses: The aim of the study was to evaluate the role of e-learning in the formative assessment of competencies (medical expert, communicator) of fellows in pediatric endocrinology in informing patients and parents with a di...

hrp0082p1-d3-160 | Growth (2) | ESPE2014

Final Height and Safety Outcomes in GH-Treated Children with Short Stature Homeobox-Containing Gene (SHOX) Deficiency: Experience From a Large, Multinational, and Prospective Observational Study

Child Christopher , Quigley Charmian , Zimmermann Alan , Ross Judith , Deal Cheri , Drop Stenvert , Blum Werner

Background: To date, one randomized, controlled, clinical trial (RCCT) demonstrated that GH-treated patients with SHOX deficiency (SHOX-D) had GH-mediated height gain comparable to that of girls with Turner syndrome (TS). No new safety concerns were identified, but the study was limited by small sample size.Objective and hypotheses: To examine long-term outcomes in patients treated in standard clinical practice, we assessed final height (FH) and safety o...

hrp0084wg3.2 | DSD | ESPE2015

DSD in Indonesia: The Course of Psychological Development in Late Identified Patients

Dessens Arianne , Ediati Annastasia , Juniarto Zulfa , Birnie Erwin , Faradz Sultana , Drop Stenvert

Background: In Indonesia clinical management of DSD is challenged by limited knowledge and diagnostic and treatment facilities.Objective and hypotheses: We investigated patients’ experiences of being raised in physical ambiguity and doubts about gender and it’s consequences on gender development, social stigmatization, and quality of life.Method: 118 Indonesian patients, age 6–41, with 46,XX DSD (n=27), 46,X...

hrp0084p3-802 | DSD | ESPE2015

Gender Reassignment in Muslim Communities

Babiker Amir , Ali Amer Al , Batti Turki Al , Jurayyan Nasir Al , Drop Stenvert L

Background: The commonest cause of 46, XX disorders of sex development (DSD) is congenital adrenal hyperplasia (CAH). We report two female virilised siblings with uncontrolled CAH who were reared as boys since birth. Different team members were involved in management. We discuss here gender reassignment and the psychosocial implications from Islamic perspectives.Case reports: An eight and 11 years old severely virilised CAH Yemeni girls were raised as bo...

hrp0095p1-583 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Androgen receptor activity in genital skin fibroblasts in response to dihydrotestosterone, testosterone and androstenedione using the APOD assay

Große-Schute Lea , Kulle Alexandra , Werner Ralf , Hiort Olaf , Drop Stenvert , Schweikert Hans-Udo , Holterhus Paul-Martin , Hornig Nadine

Introduction: Androgens are essential for the development of male sex characteristics. Testosterone (T) production from androstenedione (A) by the Hydroxysteroid 17-Beta Dehydrogenase 3 (HSD17B3) in gonadal Leydig cells triggers the differentiation of the Wolffian ducts into epididymis, vas deferens, seminal vesicles and the prostate. Shortly after, the virilisation of the external male genitalia starts through the conversion of T into dihydrotestosterone (DHT...

hrp0082fc6.2 | Gonads & DSD | ESPE2014

Next Generation Sequencing of the Androgen Receptor Gene in Patients With Androgen Insensitivity Syndrome and Controls

Hornig Nadine , Schweikert Hans-Udo , Ukat Martin , Kulle Alexandra , Welzel Maik , Wehner Gaby , Werner Ralf , Hiort Olaf , Drop Stenvert , Cools Martine , de Beaufort Carine , Siebert Reiner , Ammerpohl Ole , Holterhus Paul-Martin

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...

hrp0095lb20 | Late Breaking | ESPE2022

A Structured Education Program on Hormonal Control and Quality of Life in Congenital Adrenal Hyperplasia: a study in Indonesia

Utari Agustini , Ediati Annastasia , Zulfa Juniarto Achmad , Dewi Ariani Mahayu , Mostert Saskia , Neni Sitaresmi Mei , E Van Herwaarden Antonius , LS Drop Stenvert , L Claahsen-van der Grinten Hedi , MH Faradz Sultana

Background: Classic Congenital Adrenal Hyperplasia (CAH) needs life-long treatment of glucocorticoids. Compliance with long-term medication is still challenging, particularly in developing countries. However, there has been no prospective study about the strategy to improve compliance in CAH and its relationship with hormonal control and quality of life (QoL) in CAH, especially in underprivileged countries such as Indonesia. This study aimed to determine the r...