ESPE Abstracts

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe...

Context: We previously observed that continuous subcutaneous infusion (CSI) of gonadotropins in infants with congenital hypogonadotropic hypogonadism (CHH) can mimic the hormonal pattern of minipuberty.Objective: Describe the peripubertal outcome in gonadotropins CSI treated patients.Patients: A retrospective study was realised in Bicetre Hospital between 2004 and 2022. Follow-up d...

Objective: To assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism and to discuss the interest of a systematic screening.Material and method: A retrospective study of children with congenital hypothyroidism due to dyshormonogenesis was carried out at the pediatric endocrine center in Kremlin Bicêtre hospital, Paris, between 1999 to 2020. A screening ultrasound for thyroid nodules was t...

Background: Micronodular bilateral adrenal hyperplasia (MiBAH) is a rare cause of adrenal Cushing syndrome (CS) that may be subdivided in two main entities: primary pigmented nodular adrenocortical disease (PPNAD) and isolated micronodular adrenocortical disease (i-MAD). The most common presentation of MiBAH is familial PPNAD as part of Carney complex (CNC). The underlying genetic defect in most forms of PPNAD is inactivating germline mutations of the PRKAR1A ...

Growth failure is the gateway to a myriad of childhood and adolescent diseases. In the majority of cases, growth retardation is said to be constitutional after a detailed diagnostic evaluation. In the literature, there is a high degree of heritability of height (> 80%), underlining the predominant role of genetic factors.Objective: To identify new causes of growth retardation in 61 patients with constitutional familial short stature b...

Introduction: Children with CAH need a supraphysiologic dose of hydrocortisone, from 12-20 mg/m2/day to suppress adrenal androgens. Patients with difficult-to-treat CAH typically present with a combination of CAH-related (hyperandrogenemia, advancedbone age and short stature, amenorrhea) and glucocorticoid overtreatment–related clinical symptoms. Continuous subcutaneous hydrocortisone infusion therapy (CSHI) administered via an insulin pump has been used...

Introduction: Numerous studies highlighted a secular trend toward earlier puberty. Several factors, including nutrition and migration, may explain this trend. It is known that girls born small for gestational age (SGA) start puberty at a younger age compared to those born average for gestational age (AGA) and that overweight in childhood may be a risk factor for central precocious puberty (CPP), especially in girls. This study mainly aims to compare the evolut...

Background: Since the initial clinical description of Turner Syndrome (TS), there have been notable changes in the genotypic and phenotypic presentation of the disease. Our aimis to provide an overview of the current genetic and clinical characteristics of a large Belgian cohort of girls with TS, and the evolution over the last 3 decades.Methods: We therefore analyzed the genetic and clinical data of growth hormone(GH)-t...