hrp0092p1-281 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Virilization of a Girl at Puberty Due to a Unique Translocation of an Abnormal Duplicated Y-Chromosome to a Deleted Chromosome 9 Including the DMRT1 Gene

Graf Stefanie , Aliu Nijas , Zeino Mazen , Flueck Christa E.

Background: Virilization at puberty in girls remains a challenge. Several differential diagnoses must be considered including disorders of sex development (DSD) and tumors.Case Report: We report an 11.5-year-old girl who was referred to our center for progressive cliteromegaly since 6 months. Past medical history was remarkable for prematurity of 36 weeks gestation and for mild ongoing psychomotor delay. At presentation ...

hrp0092p2-3 | Adrenals and HPA Axis | ESPE2019

Contraceptives in Female Adolescents with 21-hydroxylase Deficiency (CAH) - a way to Optimize Treatment with Respect to Androgen Excess? A Pilot Study

Boettcher Claudia , Graf Stefanie , Flück Christa E

Background: At present, treatment of „classic" congenital adrenal hyperplasia (21-hydroxylase-deficiency, 21OHD) consists of glucocorticoid and mineralocorticoid replacement. However, often androgen excess and its negative metabolic impact are difficult to control without accepting glucocorticoid overtreatment, especially in adolescence. In healthy subjects oral contraceptives (containing ethinylestradiol) increase cortisol binding capacity and free c...

hrp0089p2-p261 | Growth & Syndromes P2 | ESPE2018

Two Different Variants of Short Stature Homeobox-Containing Gene (SHOX) Mutation in the Same Family

Graf Stefanie , Santi Maristella , Losekoot Monique , Fluck Christa E.

Objectives: Deficiency of the short stature homeobox-containing (SHOX) gene is a potential etiology of short stature in children. The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the SHOX-gene and inherited in a pseudo-autosomal dominant manner, is highly variable, even within the same family, ranging from nonspecific short stature to Leri-Weill dyschondrosteosis (LWD). Short stature, mesomelia and Madelung deformity define the classic clin...

hrp0084p2-488 | Hypo | ESPE2015

Unexplained Altered States of Consciousness in a Girl

Graf Stefanie , Gerster Karine , Kroiss Sabine , Konrad Daniel , Schonle Eugen

Background: In children, congenital hyperinsulinism is the most common cause for endogenous hyperinsulinaemic hypoglycaemia (HH). Beyond infancy other diagnoses may be considered, such as insulinoma, an insulin-secreting neuroendocrine tumour (NET) arising mostly from the pancreas. The latter is a rare cause of HH in children. The estimated incidence of insulinoma is 1:250’000 person-years of all age groups with a median age at diagnosis of 47 years. Herein, we report an ...

hrp0089p1-p224 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

The ‘ExternalGenitaliaScore’ to Describe External Genitalia in Male and Female Infants: A Europeanmulticenter Validation Study

van der Straaten Saskia , Springer Alexander , Hebenstreit Doris , Zezic Aleksandra , Tonnhofer Ursula , Gawlik Aneta , Baumert Malgorzata , Szeliga Kamila , Debulpaep Sara , Desloovere An , Tack Lloyd , Smets Koen , Wasniewska Malgorzata , Corica Domenico , Calafiore Mariarosa Calafiore , Ljubicic Marie Lindhardt , Busch Alexander Siegfried , Juul Anders , Nordenstrom Anna , Sigurdsson Jon , Fluck Christa E , Haamberg Tanja , Graf Stefanie , Hannema Sabine E , Wolffenbuttel Katja P , Ahmed S Faisal , Cools Martine

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...