ESPE Abstracts

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=...

Background and Aims: Disorders of sex development (DSD) are a group of rare congenital conditions. Clinical management of patients with DSD is often difficult and requires multidisciplinary approach.Material and methods: Twenty-eight patients aged 1 to 18 years with different forms of 46, XY DSD were included. The subjects have undergone a clinical examination, karyotype analysis followed by the next generation sequencing (NGS) using MiS...

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

Background: Hypospadias affects approximately 1/200 newborn males. Based on the testicular dysgenesis syndrome hypothesis, some may be suspected of having persistent testicular dysfunction later in life. Few clinical data currently support this hypothesis.Methods: Cross-sectional assessment of hypospadias cases (n = 193) and controls (n = 50), aged 16-21 years, recruited at Ghent University Hospital and...

Background: Bilateral testicular regression (BTR) is characterized by the absence of both testicles in a newborn male or shortly thereafter, and presenting as bilateral cryptorchidism with undetectable AMH levels and the absence of Müllerian structures on pelvic ultrasound. Depending on when the regression occurs during fetal development, the condition can be associated with a micropenis. Few studies have explored the etiology and long-term outcome of BTR...

Introduction: Advances in diagnostic capability in the field of DSD hold great promise but need a regular review.Objectives: To study the range of endocrine and molecular genetic variation in a group of boys undergoing investigation for XY DSD.Methods: 157boys with median age of 0.9yrs (range,0,18) evaluated by the DSD Diagnostic Board in Glasgow from 2016to 2021 were included. Seq...

Introduction: We report two siblings presenting with pre-pubertal gynaecomastia and macro-orchidism, who were later diagnosed with Peutz-Jeghers Syndrome (PJS) secondary to a STK11 gene variant. Importantly neither child fulfilled the clinical criteria for diagnosis at presentation, with no muco-cutaneous pigmentation nor gastrointestinal symptoms.Case report: Sibling 1 was referred to Paediatric Endocrinology aged 4 years with ...

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...