ESPE Abstracts

The activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first six months of life in boys marks the period of “mini-puberty”. It is characterized by a surge of gonadotropins, testosterone, and an increase of Sertoli cells and germ cells, crucial for future reproductive capacity. Boys with severe congenital hypogonadotropic hypogonadism (CHH) often present with undescended testes and micropenis and lack mini-puberty, leading to impaired responses t...

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for 2–5% of all cases but it is underestimated because it’s often misdiagnosed as T1D or T2D whose symptoms are often overlapping. It is a phenotypically and genetically heterogeneous disorder characterised by autosomal dominant inheritance, a young age of onset and pancreatic β-cell dysfunction.Objective and hypotheses: Actually in about ...

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

Background: Controversial data exist on the possibility that inhaled glucocorticoids (IGs) affect growth in children with mild-to-moderate asthma. The majority of these studies are short-term reports lacking long-term assessment until the achievement of final height (FH).Objectives: To assess whether IGs affect growth and FH in asthmatic children compared to controls.Methods: 113 asthmatic (57/56 (males/females)) were compared to 6...

GH and IGF1 regulate cell proliferation, differentiation and apoptosis playing a key role in growth, and leading to consider potential oncogenic effects of GH. To evaluate possible oncogenic risks in GHD patients who underwent GH replacement therapy, the SAGhE consortium was created. The data collected have not yielded definite conclusions and continuous surveillance is yet required. MiRNAs are regulators of gene expression, and are involved in many biological processes. We ai...

Introduction: HNF1B belongs to the organogenesis gene family. HNF1B is a rare autosomal disorder affecting early embryonic development of the urogenital tract, liver, pancreas and parathyroids. It is responsible for kidney damage and MODY type diabetes. It affects the female genital tract with a prevalence of uterine malformations of about 20%. To date, no study has evaluated the ovarian function or the gyneco-obstetrical profile of these patients.<p class...

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Mutations in HMGA2 have recently been identified causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective:...

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide (once daily, subcutaneous injection) has recently been approved by the European Medicines Agency (EMA) for treating achondroplasia in patients aged ≥2 years until closure of epiphyses. It has been made available in France via an early access program, a cohort Temporary Authorization fo...