ESPE Abstracts

Introduction: The aim of the project “DSDCare” is to implement standardized care for people with DSD following national and international guidelines and to evaluate structural, process and outcome quality of care at 10 specialized centres in Germany from May 2020 till June 2023. Transition from paediatric to adult care is a crucial phase in chronic and rare conditions. In DSD, “loss to follow-up” is usually not associated with acute com...

Introduction: Neutropenia is known as a rare adverse event of anti-thyroid drug treatment (ATD) but has also been reported as pre-treatment neutropenia in Graves’ disease (GD). Studies on paediatric patients are rare. To the best of our knowledge, there are no data comparing the effects of methimazole (MMI) and carbimazole (CBZ) treatment in children on the absolute neutrophil count (ANC).Methods: We analyzed retro...

Background: Pain represents one of the most stressful experiences for children undergoing medical therapies (Kortesluoma, 2008), but is under represented in literature for what concerns pediatric endocrinology. Children consider Injections one of the most painful, frighteningand distressing procedures (Fassler, 1985). The treatment for patients with Growth Hormone Deficiency requires daily subcutaneous injection, performed by parents or patients themselves. Th...

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

Background: Paediatric transgender individuals are reported, as adults, to be disproportionately affected by barriers to care, mental health problems, suicide, violence, discrimination, poverty, and HIV compared to the general population possibly due to stigma and discrimination (1). Knowing the denominator of people at risk is necessary for assessing the incidence of diseases, setting medical priorities and goals, and advocating for care programs (1).Ob...

Background: Aurantiasis cutis is a condition of yellowish or golden skin discoloration that can result from eating excessive amounts of foods containing carotene leading to hypercarotenemia, described causing secondary amenorrhea.Objective and hypotheses: Hypercarotenemia can cause secondary amenorrhea without overconsumption of excessive quantities of carotene.Method: A 16-year-old girl presented to our endocrine outpatient clinic...

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...

Pituitary gigantism is a rare disorder caused by excess of GH/IGF-1 due to GH-secreting lesions, that occurs before epiphyseal closure leading to increased linear growth. These cases have more aggressive features of pituitary disease than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to treat. Over the past two decades several molecular defects that cause GH-secreting pituitary adenomas have been identified, in...