ESPE Abstracts

Background: Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder of sex development (DSD) where affected individuals are phenotypically female but have a XY karyotype and testes. With increasing age there is an increased risk of malignant gonadal change, with incidence rates variously reported from 3.6 to 14%. Consequently, gonadectomy is recommended either during childhood or after puberty is complete, although there is no consensus on the optimal...

Objective: Typically, infants born to mothers with gestational diabetes mellitus (IOGDM) have greater risks for macrosomia, later obesity and metabolic diseases. However, we have noticed that birth weights of IOGDM have reduced over the last decade even with uniform application of the International Association of Diabetes and Pregnancy Study Group’s (IADPSG) consensus definition. We therefore compared infancy growth outcomes from two IOGDM cohorts born during non-overlapp...

Introduction: Increasing incidence of male reproductive disorders may be due to fetal exposure to putative endocrine disruptor chemicals (EDCs), such as phthalates and phenols. Anogenital Distance (AGD) is a biomarker of fetal androgen action in animals, and has recently been linked to testicular dysgenesis syndrome in humans.Objective: To examine the relationship between prenatal phthalate and phenol exposure and birth AGD in male infants.<p class="...

Background: Associations between foetal androgen deficiency and variations in anogenital distance (AGD) suggest that AGD is a reliable indicator of foetal androgen exposure. Similarly, variation in postnatal penis growth associated with variations in testosterone show penis growth to be a potential biomarker of early postnatal androgen exposure. Though variation in early androgen exposure is also hypothesized to underlie neurobehavioral masculinisation, until now, no reports h...

Background: Disorders of sex development (DSD) due to mutations in the NR5A1 (SF1) gene result in a highly variable phenotype.Objective: To report the clinical phenotype and the molecular/structural characteristics of the gene-protein product arising from three novel mutations of the NR5A1 (SF1) gene found in patients presenting with 46,XY DSD.Method: Phenotype determined from interrogation of clinical case notes. Interpre...

Background: Endocrine disrupting chemicals (EDCs), such as phthalates and bisphenol A (BPA), have been associated with insulin resistance (IR) and type 2 diabetes (T2D) in non-pregnant adults. By contrast, recent pilot studies of pregnant women found negative associations between phthalates and blood glucose, and a lack of association with BPA. No studies have examined gestational IR or secretion in relation to EDC exposure.Objective: To confirm these re...

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...

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...

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...