ESPE Abstracts

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

Background: In humans, activating mutations in the PRKAR1A gene cause acrodysostosis1 (ACRDYS1). Two striking features of this rare developmental and skeletal disorder are renal resistance to PTH and chondrodysplasia resulting from the constitutive inhibition of PTHR1/Gsa/AC/cAMP/PKA signaling caused by the PRKAR1A mutations.Objective and hypotheses: Document the consequences of the germline expression of a PRKAR1A mutation causing a dominant repression ...

Background: Animal models of insulin-dependent diabetes show hyperactivity of hypothalamus–pituitary adrenal (HPA) axis, independently of hypoglycaemia. Few data exists regarding type 1 diabetes (T1D) in children.Objective: To describe HPA axis activity according to the anxiety levels in prepubertal T1D children.Method: Prepubertal T1D children and siblings of T1D children (controls) were included. State-Trait Anxiety Inventor...

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

Background: Growth retardation affects more than 80% of patients with Noonan syndrome (NS; MIM#163950), one of the most common developmental disorders, but its origin remains poorly understood. We have demonstrated that mutations of the tyrosine phosphatase SHP2, that are responsible for half the cases of NS, impair the systemic production of Insulin-like growth factor 1 (IGF1), the biological mediator of GH acting on growth plate, through a hyperactivation of the Ras/Mitogen-...

Background: Leydig-cell tumours in children are rare, comprising only 4 to 9% of all primary testis tumours in prepubertal males. These boys present with isosexual precocious pseudopuberty characterized by increased testosterone and low gonadotropin levels. We describe two cases and will discuss differential diagnosis and pathogenesis.Case 1: C. was first referred at 8 years old for pubertal development with accelerated growth since 4 years of age. His v...

Background: For adult patients who do not meet indications to surgery, the calcimimetic cinacalcet is approved for primary hyperparathyroidism (HPT), decreasing calcium and parathyroid hormone (PTH) levels. This drug is largely used in adults, but may be a challenge in daily practice in children, because of the risk of hypocalcemia, increased QT interval and drug interactions. A few pediatric cases have highlighted its potential interest in children with HPT; ...

The aim of this study was to assess the impact of meal size on glycemic control for T1D adolescent patients equipped with Diabeloop’s Closed Loop, DBLG1 System[1], based on data from the clinical trial NCT04190277. Among this dataset we isolated 37 adolescents. Only days with ≥70% available CGM data and >50% of time in closed-loop were included in the analysis, resulting in an average duration of 18 days per patient for a total of 668 days of treatment. To asses...

Introduction: About 15% of children born small for gestational age (SGA) do not reach final height within normal range. Recombinant human growth Hormone (rhGH) has shown to be effective in catching up growth velocity and height in children born SGA.The objective of our study is to identify the predictive factors of final height in children born SGA treated with rhGH.Materials and Methods: Monocentric, retrospective s...

Stress is increasingly associated with cardiac disease. Glucocorticoids are primary stress hormones that regulate homeostasis through two nuclear receptors, the glucocorticoid receptor (GR) and mineralocorticoid receptor (MR). Cardiomyocytes express both receptors but little is known concerning their specific and coordinated actions in heart physiology and pathology. To examine the in vivo function of glucocorticoid signaling in the heart, we generated mice with cardi...