ESPE Abstracts

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...

At type 1 diabetes (T1D) onset, international guidelines reccommend a starting subcutaneous insulin dose widely ranging from 0,5 to 1 u/kg/day. In fact, many factors such as age, pubertal stage and the severity of ketoacidosis, may influence insulin sensitivity. However, it is a common experience that many subjects may require a higher insulin daily dose than expected, with the subsequent need of longer time to achieve stable blood glucose values and the extension of days of h...

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...

Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to...

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...

Background: Menarche is a significant event in the reproductive life of a woman and represents the late event in puberty indicating that a sexually immature child has become reproductively capable. Even though the timing of puberty onset is approximately conserved in different populations, the puberty starts across a wide range of ages in normal girls. However, in the last decades we are observing that girls are experiencing earlier breast development and earlier menarche, als...

Backround: Short stature (SS) is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of SS vary and are commonly grouped into pathological and nonpathological disorders. Despite standard clinical and laboratory evaluation, a pathological diagnosis is not reached in 50–90% cases.Aim: The aim of this study was to determine the etiologies and decribe the characteristic of short stature patients who were follo...

Poland’s syndrome is characterised by unilateral absence or hypoplasia of the pectoralis muscle, associated with the ipsilateral malformation of the hand. The syndrome is usually sporadic and occurs in about 1:32.000 live births. Poland’s syndrome has been described associated with other abnormalities, including renal aplasia or hypoplasia, hemivertebra, Klippel-Feil syndrome and Moebius’ syndrome. In literature are reported six cases of Moebius syndrome associa...

Introduction: In human, the development of the embryonic gonads represents a complex process involving a large number of genes, some still unknown. Specific pathways have a crucial role for the normal ovarian development, the germ cell genomic stability and hormonal maintenance. These pathways’ dysregulation can lead to POF, clinically manifesting as the absence of pubertal onset and/or amenorrhea.Objective: To identify candidate genes responsible f...