hrp0092mte4 | Klinefelter Syndrome - when should Testosterone be Started | ESPE2019

Klinefelter Syndrome - When Should Testosterone be Started?

Rohayem Julia

Males with Klinefelter syndrome (KS) have impaired gonadal function due to sex chromosome aneuploidy (47,XXY), ultimately resulting in testicular atrophy and hypergonadotropic azoospermia, thus infertility. At what time serum testosterone (T) concentrations decline in affected individuals, thereby indicating lifelong replacement, is not predictable. An early testosterone treatment provides potential benefits with respect to body composition, neuro-muscular function and final h...

hrp0095fc9.3 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Therapeutic outcomes in gonadotropin-replaced males with congenital hypogonadotropic hypogonadism (CHH) with identified genetic variants

Rohayem Julia

Background: To delineate testicular responses to gonadotropin replacement in young males with genetically proven CHH.Patients and Methods: In n=72 young males with CHH and at least one variant detected within twenty-four investigated known CHH genes, gonadotropin replacement with hCG and rFSH s.c. was performed over a mean of 2±1 years. Bi-testicular volumes and serum Inhibin B served as baseline parameters, ...

hrp0092lb-3 | Late Breaking Posters | ESPE2019

Insights into the Regulation of Androgen Biosynthesis from Males with Congenital Hypogonadotropic Hypogonadism: Quantification of Bioactive Steroid Hormones Reveals Differences Between Gonadotropin Replacement and Testosterone Replacement

Rohayem Julia , Holterhus Paul-Martin , Kliesch Sabine , Nieschlag Eberhard , Zitzmann Michael , Kulle Alexandra

Background: In males with congenital hypogonadotropic hypogonadism (CHH), LH/FSH stimulation of gonads is deficient. In clinical practice, two hormone replacement strategies are employed to induce and maintain virilisation: Treatment with testosterone and gonadotropin replacement with hCG/rFSH.Objective: To delineate the role of gonadotropins in pathways of male androgen biosynthesis and to thereby better define the gona...

hrp0089p1-p008 | Adrenals and HPA Axis P1 | ESPE2018

Impact of Puberty on Final Height in Children and Adolescents with Congenital Adrenal Hyperplasia (CAH)

Rohayem Julia , Schreiner Felix , Riedl Stefan , Voss Egbert , Wolf Johannes , Grasemann Corinna , Fink Katharina , Mohnicke Klaus

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...

hrp0089p2-p002 | Adrenals and HPA Axis P2 | ESPE2018

GnRH-analogue Treatment in Children with Congenital Adrenal Hyperplasia (CAH): Data from a Multicenter CAH Registry

Schreiner Felix , Rohayem Julia , Fricke-Otto Susanne , Golembowski Sven , Jorch Norbert , Schwab Karl Otfried , Warncke Katharina , Zanier Ulrike , on behalf of the German CAH Registry (DGKED-QS)

Background: Final height in patients with congenital adrenal hyperplasia (CAH) is generally assumed to be lower than the population norm. Besides CAH subtype and age at diagnosis, timing of pubertal development is considered to have a significant impact on final height. In most CAH patients, puberty starts within normal ranges, although at a somewhat earlier mean age compared to reference populations. CAH-complicating gonadotropin-dependent precocious puberty has been reported...

hrp0084fc3.4 | Diabetes | ESPE2015

Wolfram Syndrome: Natural History and Genotype–Phenotype Correlation Based on EURO-WABB Registry Show Gender Differences in Disease Severity

Dias Renuka , Richens Caitlin , Astuti Dewi , Nightingale Peter , Ayme Segolene , Heredia Miguel Lopez de , Nunes Virginia , Maffei Pietro , McCafferty Susan , Młynarski Wojciech , Parkinson Kay , Paquis-Flucklinger Veronique , Rohayem Julia , Sinnott Richard , Tillmann Vallo , Tranebjaerg Lisbeth , Barrett Timothy

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...

hrp0095p1-177 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Empower-DSD: Development of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents

Wiegmann Sabine , Ernst Martina , Ihme Loretta , Wechsung Katja , Kalender Ute , Stöckigt Barbara , Richter-Unruh Annette , Vögler Sander , Hiort Olaf , Jürgensen Martina , Marshall Louise , Menrath Ingo , Schneidewind Julia , Wagner Isabel , Rohayem Julia , Liesenkötter Klaus-Peter , Wabitsch Martin , Fuchs Malaika , Herrmann Gloria , Luther Henriette , Ernst Gundula , Lehmann Christine , Haase Martina , Roll Stephanie , Schilling Ralph , Keil Thomas , Neumann Uta

Background: Differences in sexual development (DSD) are rare diagnoses, which affect the chromosomal, anatomical or gonadal sex differentiation. Although comprehensive counseling of patients and parents/carers is necessary to ensure a positive coping with the diagnosis and a well-informed decision-making, standardised programmes are lacking. Empower-DSD is a government-funded project, which developed an age-adapted multidisciplinary education programme to impr...

hrp0094p1-143 | Sex Endocrinology and Gonads B | ESPE2021

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21 hydroxylase deficiency in Europe

Nowotny Hanna F. , Neumann Uta , Tardy-Guidollet Veronique , Ahmed S. Faisal , Baronio Federico , Battelino Tadej , Bertherat Jerome , Blankenstein Oliver , Bonomi Marco , Bouvattier Claire , de la Perriere Aude Brac , Brucker Sara , Cappa Marco , Chanson Philippe , Grinten Hedi L. Claahsen van der , Colao Annamaria , Cools Martine , Davies Justin H. , Gunther Dorr Helmut , Fenske Wiebke K. , Ghigo Ezio , Gravholt Claus H. , Huebner Angela , Husebye Eystein Sverre , Igbokwe Rebecca , Juul Anders , Kiefer Florian W. , Leger Juliane , Menassa Rita , Meyer Gesine , Neocleous Vassos , Phylactou Leonidas A , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Vojtkova Jarmila , Yeste Diego , Lajic Svetlana , Reisch Nicole ,

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...