ESPE Abstracts

Background: Anogenital distance (AGD) is an indicator of androgen action in utero. Reduced AGD has been found in males with hypospadias, cryptorchidism, low semen quality and infertility. Its usefulness as a clinical marker in patients with Disorders of Sex Development (DSD) is currently being investigated. However, detailed age, sex and method related reference ranges do not exist. Whether individual (body-size-adjusted) AGD is stable postnatally also remains to be e...

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: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Context: Transient thelarche (TT) corresponds to the appearance, regression and subsequent reappearance of the breast bud in girls. Only a single study about its frequency and progression is available (Lindhardt Johansen JCEM 2017).Objective and Hypotheses: To determine whether girls with TT girls (group 1) compared to girls without TT (group 2) show differences in i) timing/sequence of pubertal events ii) pattern of rep...

Background: The circulating steroid metabolome in boys undergoes significant changes during infancy reflecting functional and structural rearrangements of the adrenal glands as well as the transient activity of the hypothalamic–pituitary–gonadal axis, also called minipuberty. Studies investigating the serum steroid metabolome dynamics during infancy in a longitudinal manner are however sparse.Objective: We ai...

Classical growth hormone insensitivity (GHI) is caused by a defect of the growth hormone receptor and is characterized by severe postnatal growth failure, craniofacial disproportion, IGF-I deficiency and normal or elevated levels of growth hormone. This is a rare condition. With the development of new genetic techniques during the last two decades other monogenetic defects resulting in milder forms of GHI have been identified. These include genes involved in the GH-IGF-I axis:...

Background: This multi-country study, conducted in the USA, is also ongoing in France, Germany, Brazil and South Korea (52 healthcare professionals (HCPs) and 30 patients/caregivers in total). The new device consists of a reusable aluminium body and cap, with a multi-use cartridge system, viewing window, dose-display window, dose-selection knob and injection button.Method: Semi-structured 60-min qualitative interviews were conducted in six major US citie...

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....

A ten year old girl was brought by the emergency mobile service for a persistent status epilepticus despite administration of Diazepam on site. She had presented headaches for the last three days and one episode of fever was suspected but not measured four days earlier. She had one episode of dizziness five days earlier.Persistent status epilepticus required invasive ventilation as well as deep sedation with Levetiracetam, Midazolam, ketamine, phenytoin,...

Background and hypotheses: Recent results showing elevated tetrahydrocortisol/tetrahydrocorticosterone ratio (THFs/THE) in morning urines of diabetic children compared to controls suggest an increased nocturnal activity of 11 β-hydroxysteroid dehydrogenase type 1 (11β-HSD1). We made the hypothesis that a reduced inhibition of hepatic 11β-HSD1 activity by exogenous insulin, due to its subcutaneous (SC) administration and absence of first hepatic passage, could ex...