hrp0092p2-247 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Does the Anogenital Distance Predict Outcome of Hypospadias Repair?

Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Hiess Manuela , Metzelder Martin , Hebenstreit Doris

Purpose: The anogenital distance (AGD) is androgen action dependent. It is sexually dimorphic and seems to be shorter in androgen-action related diseases like hypospadias. In this study we sought to determine whether the AGD is predictive for surgical outcome in hypospadias repair.Material and Methods: Patients were collected prospectively. AGD was measured in OR prior to surgery by 2 surgeons (blinded, each 3 times). Ou...

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...

hrp0082p1-d2-1 | Adrenals & HP Axis | ESPE2014

Allelic Frequencies of CYP21A2 Variants and Genotype–Phenotype Correlations in a Cohort of 660 CAH Patients from Germany and Austria*

Riedl Stefan , Rohl Friedrich-Wilhelm , Empting Susann , Bonfig Walter , Dorr Helmuth-Gunther , Holl Reinhard , Mohnike Klaus

Background: Congenital adrenal hyperplasia (CAH) due to a CYP21A2 defect (autosomal recessive) leads to salt wasting (SW), simple virilizing (SV), or non-classical (NC) phenotypes basically depending on residual 21-hydroxylase (21-OH) function on the least affected allele.Objective and Hypotheses: To test prediction of CAH phenotype based on genotype classification.Method: Patient data from 37 centers were retrieved from a...

hrp0082p2-d2-297 | Bone (1) | ESPE2014

Severe Heterotopic Ossifications in a 10-year-old Boy with PHP1a

Raimann Adalbert , Alexandra Ertl Diana , Riedl Stefan , Schlegel Werner , Haeusler Gabriele

Background: Progressive osseous heteroplasia (POH) is a rare condition characterized by extensive heterotopic ossification (HO) of connective tissues. Associations of HO and Albright hereditary dystrophy (AHO) lead to the identification of GNAS mutations to be causative for ectopic none formations. The highly imprinted GNAS locus is known to cause a broad spectrum of pathologic conditions, including pseudohypoparathyrodism (PHP), pseudoPHP AHO. While PHP is caused by maternal ...

hrp0094p2-429 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

4-year-old female patient with mixed germ cell tumor and underlying Cowden syndrome

Habacht Daniela , Boztug Heidrun , Engstler Gernot , Kager Leo , Boztug Kaan , Pauer Sophie , Amann Gabriele , Zeitlhofer Petra , Riedl Stefan

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral en...

hrp0092p1-261 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Urological and Psychosexual Outcome of Men Born with Hypospadias

Tack Lloyd , Van Hoecke Eline , Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Weninger Julia , Hiess Manuela , Van Laecke Erik , Hoebeke Piet , Spinoit Anne-Françoise , Cools Martine

Introduction: According to EAU's guidelines, hypospadias (HS) repair is best performed between 6 and 18 months of age. Little is known about the long-term patient satisfaction or urological outcome following HS surgery.Aims: To examine the psychosexual and urological outcome of young adult men (16-21 years old) born with all forms of non-syndromic HS as compared to healthy controls, as well as patient and parental sa...

hrp0092p1-271 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Endocrine and Reproductive Outcome of Men Born with Various Degrees of Hypospadias

Tack Lloyd , Springer Alexander , Mahmoud Ahmed , Tilleman Kelly , Riedl Stefan , Tonnhofer Ursula , Hiess Manuela , Weninger Julia , Van Laecke Erik , Hoebeke Piet , Spinoit Anne-Françoise , Cools Martine

Introduction: Limited, small-scale studies have revealed that men with proximal hypospadias (HS) or with other signs of undermasculinisation (i.e. complex HS) are at risk of reduced fertility and/or impaired testicular hormone synthesis. However, the extent of this phenomenon and if milder forms of isolated HS are also affected, remains unclear.Aims: To explore reproductive hormones and semen quality of young men (16-21 ...

hrp0094p1-44 | Sex Endocrinology and Gonads A | ESPE2021

Adolescents and young adult men with non-syndromic hypospadias: testicular function and in-depth genetic screening

Tack Lloyd , Spinoit Anne-Francoise , Riedl Stefan , Springer Alexander , Tonnhofer Ursula , Hiess Manuela , Weninger Julia , Mahmoud Ahmed , Tilleman Kelly , Laecke Erik Van , Hoebeke Piet , Juul Anders , Albrethsen Jakob , De Baere Elfride , Verdin Hannah , Cools Martine ,

Background: Hypospadias affects approximately 1/200 newborn males. Based on the testicular dysgenesis syndrome hypothesis, some may be suspected of having persistent testicular dysfunction later in life. Few clinical data currently support this hypothesis.Methods: Cross-sectional assessment of hypospadias cases (n = 193) and controls (n = 50), aged 16-21 years, recruited at Ghent University Hospital and...

hrp0086p1-p352 | Gonads & DSD P1 | ESPE2016

A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism

Johansen Marie Lindhardt , Acerini Carlo , Andrade Juliana , Balsamo Antonio , Cools Martine , Cuccaro Rieko Tadokoro , Darendeliler Feyza , Fluck Christa E , Grinspon Romina , Guran Tulay , Hannema Sabine , Lucas-Herald Angela K , Hiort Olaf , Lichiardopol Corina , Ortolano Rita , Riedl Stefan , Ahmed S Faisal , Juul Anders

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...

hrp0092s7.3 | Adrenal Insufficiency: New Mechanisms, New Therapies | ESPE2019

Widening the Horizon - Clinical Relevance of Steroid Hormone Pathways

Wudy Stefan A.

While it had been widely believed at the end of last century that most problems in steroid metabolism had already been solved, and not much more significant discoveries were to be expected anymore, recent exciting observations and rediscoveries have initiated a renaissance in steroid metabolism research. These revolutionary findings have often been initially made in animals and have also significantly been driven by new steroid analytical techniques based on mass spectrometry....