ESPE Abstracts

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

Background: Prader–Willi syndrome (PWS) results from loss of paternally imprinted genes from the 15q11–13 region and causes hypotonia with weight faltering in infancy, followed later by obesity which is classically attributed to hyperphagia.Objective and hypotheses: To determine, where possible, the age at onset of unwanted weight gain (as opposed to actual obesity) in children with PWS attending a specialist clinic.Metho...

Background: Anti-Müllerian hormone (AMH) is produced by small growing ovarian follicles. It inhibits both FSH induced maturation of follicles as well as aromatase activity. Genetic variation of AMH signalling is associated with age at menopause and circulating oestradiol levels, i.e. AMH rs10407022 T>G (intragenic) and AMHR2 rs11170547 C>T (putative enhancer).Objective and hypotheses: This present study aims to investigate ...

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

Introduction: The survival rates for childhood cancer have significantly increased over the past decades but the management of treatment-related complications remains challenging. Thus, the introduction of novel drugs requires careful investigation of potential off-target side effects. The developing skeleton is severely affected by the anticancer treatment which may result in growth retardation and short stature. Venetoclax is a selective Bcl-2 inhibitor whic...

Background: The actual Swedish growth references are based on a cohort born 1974.Objective and hypotheses: Due to secular changes there is need for new height references.Method: Material: Height measurements from birth to adult height (AH) in a cohort of healthy, Nordic and born full term 1990, 20.796 from 1647 boys, 19.202 from 1501 girls were used (ALL) and compared to both a subgroup with puberty close to mean (PHV &#17...

Background: To evaluate the efficacy of thyroidectomy, it is necessary to know its complications; however, there is a great discrepancy in the literature regarding its incidence. A greater surgical aggressiveness achieves better control of the disease, but may be accompanied by more complications. Hypocalcemia is the most frequent potential complication after thyroidectomy, but its persistence can lead to serious systemic effects. The objective of this study i...

Introduction: Testicular adrenal rest tumor (TART) is the most important cause of infertility in male with congenital adrenal hyperplasia (CAH). TART is a benign tumor, mainly bilateral (75-80%), usually diagnosed in under-treated CAH male with hypercorticotropinemia, which generally regresses after glucocorticoids therapy adjustment. However, it may determine an irreversible damage by compression and toxic-paracrine effects on the surrounding testicular t...

Short stature is a frequent reason for referral to pediatric endocrinologists and this phenotype has been associated with a large number of gene variations during the last decades, highlighting its complex and heterogeneous etiology. We evaluated the detection rate of the analysis of a selected gene panel in a cohort of patients with short stature defined as height below -2 standard deviations (SD). Overall, 134 patients were included in the study: 73 with GH deficiency (GHD),...

Background: Low bone mineral density (BMD) has been found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. However, the mechanism/s of low BMD in PWS have not been clarified. These patients also display high BMI-SDS that prompted us to evaluate the levels of LIGHTTNFSF14, a cytokine involved in pathological bone remodeling and obesity.Objecti...