ESPE Abstracts

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

Background: Subjects with non classical congenital adrenal hyperplasia (NCCAH) often present an increased growth velocity secondary to elevation of adrenal androgens that promote early bone maturation and compromise final height (FH). The aim of the study was to analyze prognostic factors affecting growth trajectory and FH in children with NCCAH.Design: retrospective, multicentric studyStud...

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

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...

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...