hrp0097p1-4 | Adrenals and HPA Axis | ESPE2023

Major importance of genetic background in cortisol metabolism: Salivary diurnal glucocorticoid profiles in monozygotic twins with intra-twin birthweight-differences

Schulte Sandra , Eberhardt Nora , Roedig Thea , Schreiner Felix , Plamper Michaela , Bartmann Peter , Holterhus Paul-Martin , Kulle Alexandra , Gohlke Bettina

Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on glucocorticoid metabolism. We studied monozygotic twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw and catch-up growth on glucocorticoid metabolism.Methods: 46 monozygotic prepubertal twin-pai...

hrp0097p2-166 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Value of antimullerian hormone (AMH) in the diagnosis of precocious puberty: revaluation of the covid-19 post-pandemic cohort

Diez-Lopez Ignacio , Aurora Vilella San Martín Leyre , Sarasua Miranda Ainhoa , San Martin Orayen Amaia , Maeso Mendez Sandra

During the pandemic, an increase in the cases of premature thelarche consultations was observed. Our group published a series in 2021 of 75 cases. This effect could have been caused by an increase in body fat mass in girls, suggesting a “trigger effect” in the activation of the gonadal axis, causing an increase in the number of cases of early puberty (SEEP Oviedo 2022). AMH has been correlated as a predictor of the moment of menarche (doi: 10.1515/jpem-2014-0521)</...

hrp0098fc4.3 | Adrenals and HPA Axis 1 | ESPE2024

Plasma reference values for C19 oxy-steroids, 11-keto testosterone and 11-keto androstenedione in a paediatric cohort

Kulle Alexandra , Reese Sara , Caliebe Amke , Reinehr Thomas , Simic-Schleicher Gunter , Schulz Esther , Heger Sabine , Holterhus Paul-Martin

Introduction: Rege et al. (2018) demonstrated that 11-keto-testosterone (11KT) is the dominant androgen in girls during adrenarche. Claahsen-van der Grinten et al. (2022) proposed C19 oxysteroids as a potential parameter for therapeutic control in congenital adrenal hyperplasia (CAH). Turcu et al. (2016) observed a significant elevation in C19 oxysteroids in patients with 21-hydroxylase deficiency (21OHD). Currently, C-19 oxysteroids...

hrp0098fc9.5 | Sex Endocrinology and Gonads | ESPE2024

Sex hormones shape the skeleton: The impact of puberty suppression and gender affirming hormone therapy on skeletal dimensions in transgender individuals

Boogers Lidewij , Sikma Boukje , Wiepjes Chantal , Bouman Mark-Bram , van Trotsenburg Paul , den Heijer Martin , Hannema Sabine

Context: Skeletal dimensions vary between sexes. Men typically have broader shoulders while women have a wider pelvis. It remains unclear to what extent gender affirming hormone therapy (GAHT) with or without prior puberty suppression (PS) can alter these dimensions in transgender individuals.Methods: Transgender individuals assigned male at birth (AMAB) and assigned female at birth (AFAB) were included in this retrospec...

hrp0098rfc4.3 | Adrenals and HPA Axis 1 | ESPE2024

Differences and similarities in salivary diurnal adrenal hormones in monozygotic twins with intra-twin birthweight-differences

Roedig Thea , Schulte Sandra , Eberhardt Nora , Schreiner Felix , Bartmann Peter , Holterhus Paul-Martin , Kulle Alexandra , Gohlke Bettina

Objective: Low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic and cardiovascular sequelae in later life. Although it is already well known that DHEAS is increased in formerly small-for-gestational-age singletons and in smaller twins compared to their normal-weight co-twin, less is known concerning other adrenal hormones. We analysed diurnal salivary profiles in prepubertal six to eight years old monozygotic twins ...

hrp0084p1-58 | DSD | ESPE2015

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

Lucas-Herald Angela K , Ahmed S Faisal , Bertelloni Silvano , Juul Anders , Bryce Jillian , Jiang Jipu , Rodie Martina , Johansen Marie L , Hiort Olaf , Holterhus Paul-Martin , Cools Martine , Desloovere An , Weintrob Naomi , Hannema Sabine E , Guran Tulay , Darendeliler Feyzad , Nordenstrom Anna , Hughes Ieuan

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

hrp0084p2-312 | DSD | ESPE2015

Birth Weight in Different Aetiologies of Disorder of Sex Development

Poyrazoglu Sukran , Darendeliler Feyza , Ahmed Syed Faisal , Bryce Jillian , Jiang Jipu , Rodie Martina , Hiort Olaf , Hannema Sabine E , Bertelloni Silvano , Lisa Lidka , Guran Tulay , Hughes Ieuan , Cools Martine , Chatelain Pierre , Claahsen-van der Grinten Hedi L , Nordenstrom Anna , Holterhus Paul-Martin , Kohler Birgit , Niedziela Marek , Krone Nils

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

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...

hrp0097p1-368 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

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

Neumann Uta , Wiegmann Sabine , Ernst Martina , Ihme Loretta , Wechsung Katja , Kalender Ute , Stöckigt Barbara , Richter-Unruh Annette , Holland Cindy , Hiort Olaf , Jürgensen Martina , Marshall Louise , Döhnert Ulla , Schneidewind Julia , Wagner Isabel , Rohayem Julia , Liesenkötter Klaus-Peter , Wabitsch Martin , Fuchs Malaika , Herrmann Gloria , Bauer Agnes , Haase Martina , Grau Anna , Klose Torben , Roll Stephanie , Schilling Ralph , Keil Thomas

Background: Within the government-funded project Empower-DSD, modular training programmes for children and young adults aged 6-24 years with the diagnoses CAH, Turner-syndrome, Klinefelter-syndrome or XX-/XY-DSD (including MRKH) and their relatives were developed to improve diagnosis-specific knowledge, skills and empowerment. Overall, 105 trainings were offered between August 2020 and September 2022 in 5 centres with DSD expertise in Germany.<p class="abs...

hrp0082lbp-d3-1013 | (1) | ESPE2014

Copy Number Determination of CYP21A2 Gene Supplements the Molecular Biological Analysis of Hungarian Patients with 21-Hydroxylase Deficiency

Klara Koncz , Andrea Luczay , Marton Doleschall , Racz Karoly , Attila Patocs , Sallai Agnes , Hosszu Eva , Halasz Zita

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by 21-hydroxylase deficiency in 95% of all cases. This disorder is related to the mutation of CYP21A2 gene that is located in a multiallelic complex called RCCX module showing tandem copy number variation. Molecular genetic analysis of genes located in such region is frequently difficult but the accurate diagnosis of patients suspected with CAH requires a complex molecular analysis.<...