ESPE Abstracts

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...

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)</...

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...

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...

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 ...

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...

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...

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...

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...

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.<...