ESPE Abstracts

Background: Androgen insensitivity syndrome in its complete form (CAIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriated normal concentrations of androgens. Pathogenesis is the result of mutations in the x-linked androgen receptor (AR) gene, which encodes for the ligand-activated AR. We report the clinical, biochemical and molecular features of two affected sisters in whom a nove...

Background: The 45,X/46,XY mosaicism represents a wide spectrum of phenotypes, from phenotypically normal females to males and varying degrees of genital ambiguity. Growth seems to be impaired in these patients. It is associated with increased risk of germ cell tumours.Aim: To evaluate growth, gonadal function and tumour risk in a large group of children with 45,X/46,XY mosaicism in a single tertiary centre.<p class=...

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the AR gene, including exons and the 5’UTR region. Psychosexual variab...

Introduction: Disorders of sex development (DSD) are a group of congenital disorders in which the development of chromosomal, gonadal, and anatomical sex is atypical and disharmonious. These DSD may constitute a medical emergency (a salt-wasting syndrome in congenital adrenal hyperplasia) or a social emergency due to the parents’ anxiety generated by the difficulty of assigning the child's sex at birth. Providing urgent and adapted care defining the sexual orientat...

The SRD5A2 gene (MIM607306) codes for the type 2 5α-reductase enzyme that catalyzes the conversion of testosterone to its active metabolite, dihydrotestosterone (DHT), essential for the development of the male external genitalia. Pathogenic variants in homozygosis or compound heterozygosis may be responsible for a 46XY Disorder of Sex Development.Case: A 5-year-old girl who was referred to us after the mother noticed lumps on both ...

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...

Background: Severe early-onset obesity (SEOO) in children is more frequently observed in subjects with genetic disorders of which those of leptin pathway can be analyzed biochemically and genetically.Objectives: The aim of the study was to investigate anthropometrics and leptin parameters, specifically searching for bio-inactive leptin, in children with SEOO.Methods: Study cohort includes children ...

Introduction: 46 XY sex development disorders are a group of rare congenital conditions in which chromosomal, gonadal or anatomic sex is atypical. Less than 20% of cases have a precise genetic diagnosis.We report here the case of a patient suffering from a 46 XY sexual development disorder secondary to the MAMLD 1 gene mutation.Observation: The patient is a nine month infant who was admitted fo...

As in previous years, most of the studies concern the medium and long-term complications of cancer therapy. Issues related to long-term surveillance strategies represent an emerging topic of discussion. In comparison with previous years, this year we have found few truly original and innovative studies. Rather, the attention of the researchers seems to be focused on confirming and consolidating acquired data, in particular: - The development of subsequent neoplasms in childhoo...

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...