ESPE Abstracts

Background: Pseudohypoparathyroidism (PHP) is characterized by proximal tubular resistance to PTH and, in some disease variants, by Albright osteodystrophy. PHP is caused either by mutations in those regions of GNAS encoding Gsα (PHP1A and PseudoPHP) or by GNAS methylation defects (autosomal dominant (AD) and sporadic (spor) PHP1B). Phenotypic differences in fetal growth, post-natal growth and metabolism are observed in the different PHP types.<p cla...

Background: Hypothamamic hamartomas (HH) are rare benign tumours of the tuber cinereum revealed by central precocious puberty (CPP) and, in some cases, gelastic seizures and cognitive impairment.Objective and hypotheses: Evaluation of the treament by GnRH analogues on control of puberty and final height in patients with HH.Method: We report a series of five cases of CPP secondary to HH (four girls and one boy). Early in infancy (9 ...

Background: X-linked Hypophosphatemia (XLH), the most common heritable form of rickets, is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Affected children present with hypophosphatemia resulting in rickets, bowing of the legs and short stature. Limited information is available about the disease burden in child...

Since the first description of pseudohypoparathyroidism (PHP), a remarkable clinical variability, which translates in several PHP subtypes, was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities, stressing the common mechanism responsible for all diseases. iPPSDs ...

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...

Short stature and hypogonadism are frequent symptoms in Turner syndrome (TS). In most cases, puberty must be induced but pubertal induction modalities are not consensual. Moreover, pubertal induction impact on final height and pubertal growth spurt has not been studied in depth. Our aim was to study factors influencing final height during pubertal induction in TS. Retrospective cohort of 45 TS girls followed in a single center: Bicetre hospital. We recorded auxological paramet...

Background/aim: Hyperparathyroidism (HPHT) is a common feature in patients with X-linked hypophosphatemia (XLH) especially when treated with vitamin D analogues and phosphate supplements. Although the exact mechanism is not clear, it is assumed that phosphate supplements taken chronically stimulate parathyroid hormone (PTH) secretion. We prospectively assessed the effect of a novel pathogenetic treatment anti-FGF23 (burosumab) on PTH levels in children with XL...

Summary: Severe obesity with various complications is a growing public health problem in childhood. Due to the lack of available hygienic and dietary therapeutic solutions, bariatric surgery has become, in recent years, one of the only effective treatments for severe obesity to induce persistant weight loss and reduce complications.Material and method: We analyzed a cohort of 162 patients followed in the specialized obes...

Introduction: Pseudohypoparathyroidism (hereafter named iPPSD for inactivating PTH/PTHrP Disorder) is a rare disease characterized by hormonal resistance including PTH, subcutaneous ossifications, short stature, brachymetacarpy and early onset obesity. iPPSD type 2 and 3 are caused by genetic or epigenetic variations in the GNAS gene or its promoters. Although uncommon features have been identified such as severe asthma or sleep apnea, digestive manifestations...

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...