ESPE Abstracts

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

Background: Hypoglycemia is a common side effect of insulin replacement therapy in patients with type 1 diabetes mellitus (T1DM). With the advancement of diabetes technology, sensor-augmented pump therapy (SAP) with predictive low glucose suspend feature offers a potential solution for hypoglycemia in patients with T1DM. However, evidence from randomized trials about the efficacy and safety of PLGS is limited.Method: We ...

Background: Paediatric patients with sellar masses such as craniopharyngioma (CP) or cyst of Rathke’s pouch (CRP) frequently suffer disease- and treatment-related sequelae.Objective and hypotheses: We analysed the impact and prognostic relevance of initial hydrocephalus (HY) and hypothalamic involvement (HI) on long-term survival and functional capacity (FC) in children with CP or CRP.Method: Using retrospective analysis of pa...

Introduction: Van Wyk-Grumbach Syndrome (VWGS) is a constellation of symptoms including precocious puberty without adrenarche, delayed bone age, ovarian cysts, and hypothyroidism.Case report: We report here a five-year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding, and abdominal distention. Her HtSDS =-1.3 and BMI SDS =1.5. A large abdominal mass was palpable. She had no breast development or pubic hair. Her Inv...

Case presentation: We report a five -year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding for two days, and abdominal distention. There was no history of local trauma or vaginal discharge associated with the vaginal bleeding and no suspicion of abuse. There was no purpura or bleeding from other sites. Her HtSDS = -1.3 SD and BMI SDS = + 1.5 SD. A large abdominal mass was palpable. There was no hepatomegaly, splenomegaly or lymphadenopat...

Introduction: Disorders of sex development (DSD) are conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex. We present a case of a phenotypic 46 XY female with primary amenorrhea and full thelarche, presence of Mullerian structures, elevated testosterone with no virilization, and bilateral adnexal masses. Our differential diagnosis included Androgen Insensitivity and Gonadal Dysgenesis.Case Descriptio...

Aim: The aim of the study was to predict the risk of tumor recurrence in OBTMaterial and Methods: We conducted a retrospective, observational study (2001-2018) on the management of OBT in girls aged 0 to 18 at Toulouse University Hospital, France.Results: 68 patients were included. 16% were prepubertal. Mean age was 11.35 ± 3.08 years. Pain was the main symptom in 49% ...

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by mutation in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a crucial role in male sexual differentiation and development. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male shows some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, par...

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by susceptibility to tumours including haemangioblastomas of retina and central nervous system, renal cell carcinoma and phaeochromocytomas. The disease is caused by mutations in the VHL tumour suppressor gene.Objective and hypotheses: We present an adolescent with VHL disease confirmed by genetic analysis which revealed the mutation p. A149P (PCC>GCC), which ...

Background: Patients with NNT (Nicotinamide Nucleotide Transhydrogenase) gene mutations, a rare cause of glucocorticoid and mineralocorticoid deficiency. Adrenal Rest Tumor (ART) in females, reported so far only in noncompliant patients with congenital adrenal hyperplasia and elevated ACTH levels, is very rare (<20 cases world-wide). This study characterizes the pathophysiology, the molecular ontogeny and methylation analysis of a unique ART in a female wit...