ESPE Abstracts

Objectives: To describe the patients with gender non-conforming referred to a pediatric medical center after creation of the multidisciplinary team "APEVAGE" (Ambulatorio Pediatrico per la Varianza di Genere, Pediatric Clinic for Gender Variance) composed by pediatric endocrinologist, psychologist and child psychiatrist at Institute for Maternal and Child Health "Burlo Garofolo" in Trieste. It is one of the 8 centers recognized by ONIG (Osserva...

Background: Hypothyroidism is associated with impared growth and pubertal delay. However, there are female patients with untreated acquired hypothyroidism and paradoxical precocious pubertal signs, which include thelarche, galactorrhoea and menarche. These girls do not have axillary and pubic hair development. The exact mechanism for this pseudoprecocious puberty is not clear. The most probable explanation is that high levels of TSH act through the FSH recepto...

Introduction: Primary hypogonadism is stated as one of major features in patients with Turner Syndrome (TS), however it is not a constant finding. Variable markers of ovaries failure in TS patients are still missing. The present study aimed to evaluate the usefulness of atymullerian hormone and inhibin B assessment in predicting spontaneous puberty in patients with TS.Methods: The study included 35 TS patients. Gonadal a...

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. Female fetuses with classical CAH are virilized, which can be prevented by prenatal dexamethasone (DEX) treatment from gestational week 7. However, 7 out of 8 fetuses are treated unnecessarily during fetal life and are thus exposed to high prenatal glucocorticoid (GC) levels. Both prenatal exposures to high GC levels, as well as long term postnatal GC-treatment in patients with CAH are ...

Background/aim: The PTEN hamartoma tumor syndrome (PHTS) is an overgrowth syndrome caused mainly by germline mutations in the tumor suppressor PTEN. Patients are predisposed for the development of malignant and benign tumors. Children and adolescents with PHTS frequently develop single or multiple lipomas. PTEN antagonizes the phosphatidylinositide3-kinase/AKT/mechanistic target of rapamycin (PI3K/AKT/mTOR) pathway, which promotes proliferation and differentiation in ...

Background: Variants in the estrogen receptor α (ESR1) have previously been described in male and female patients presenting with estrogen resistance. Estrogen resistance is characterized by delayed bone-age, early-onset osteoporosis, delayed puberty and multicystic ovaries in women. So far, no clinical consequences of variants in the estrogen receptor β (ESR2) have been reported in 46,XX patients, although ESR2 variants have previously been implicated in 46,XY DSD p...

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of 46,XY disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing revealed to carry a X-linked mutation in the StAR-related lipid transfer domain prote...

Objectives: Several different pathogenic mechanisms may converge on a final common pathway to produce the phenotype of delayed pubertal timing. In our cohort of patients with familial self-limited delayed puberty (DP) we have demonstrated mutations in IGSF10 leading to mis-regulation of the embryonic migration of GnRH neurons (Howard et al, EMBO MM 2016). We aimed to discover novel genetic mutations in pathways regulating GnRH neuronal migration and developme...

Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk fa...

Introduction: Very little is known about the development of the immune system during puberty. Autoimmune diseases, like juvenile onset systemic lupus erythematosus (jSLE), have an unexplained female bias and a higher incidence after puberty. IFN alpha (IFNα) is a potent antiviral cytokine, and jSLE has a strong IFNα transcriptional signature. Toll like receptors 7 and 9 (TLR7/9) sense viral RNA and DNA respectively, and trigger plasmacytoid dendritic cells (pDC) to p...