Endocrine Abstracts

The variability in the manifestation of DSD covers a spectrum ranging from normal external female and male phenotypes to ambiguous genitalia. The latter scenario represents the sino qua non of DSD and poses a fundamental problem at birth – the inability to sex assign instantaneously. The typical newborn phenotype is represented by the ambiguity of a small penis/enlarged clitoris, labioscrotal folds, a single perineal orifice and gonads which may, or may not, be pal...

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Gonadal dysgenesis (GD) is characterised by maldevelopment of the gonads and is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. The phenotype of PGD is variable and diagnosis is based on clinical and biochemical features, coupled with gonadal histology and genetic findings. “46,XY Gonadal Dysgenesis: diagnosis and long-term outcome” has recently been approved as an I-DSD Registry-based study. The aim is to characterise the ...

Introduction: Steroidogenic factor-1 (SF-1) is encoded by the NR5A1 gene on chromosome nine and is a nuclear receptor involved in adrenal and gonadal development and differentiation. There is wide phenotypic variation in individuals with NR5A1 mutations, but little is known about the natural course of patients during puberty. This study reports the case of a phenotypical female who showed profound virilisation at puberty due to a mutation in the NR5A1 gene.<p class="abstex...

Introduction: The adipokine adiponectin promotes insulin sensitivity and its circulating levels are inversely related to adiposity in adults and older children. In small for gestational age (SGA) infants adiponectin levels decline rapidly with age in early life and have been inversely associated with subsequent weight gain. There are few data in early infancy, especially in non-SGA infants.We therefore investigated the association between adiponectin lev...

Background: 5α-Reductase type 2 deficiency (5ARD) is caused by mutations in the SRD5A2 gene. Inadequate masculinisation in XY individuals results from failure to convert testosterone (T) to dihydrotestosterone (DHT), a potent androgen. A decreased serum T:DHT ratio is frequently taken to identify 5ARD, but requires hCG stimulation for prepubertal patients; findings are not always supported by genotyping. Urine steroid profiling (USP) by GC-MS is established as showing sig...

Introduction: We describe a case of 17- beta hydroxysteroid dehyrogenase Type III (17-βHSD3) deficiency in a girl from the travelling community. This case demonstrates how the clinical picture may not correlate with the biochemical results.Case: A 4.7 year old girl presented for elective hernia repair. Intraoperatively, what was felt to be a testis was palpated. Investigations revealed a 46, XY karyotype. Pelvic ultrasound demonstrated absence of mu...

Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...

Introduction: 5-alpha reductase deficiency (5aRD) is a rare cause of 46XY DSD, that affects sex development before birth and during puberty. The incidence is unknown; affected individuals have been described from all around the world, particularly in small communities or where consanguinity is common.Methods: A 20-year retrospective review of presenting features, biochemical data and genetic analysis of all patients presenting to a single multidisciplina...

Although androgen insensitivity syndrome (AIS) is commonly suspected as a cause of a 46,XY disorder of sex development (DSD), only about half of these cases can be attributed to an inactivating mutation within the coding sequence (CDS) of the androgen receptor (AR) gene. This led to the hypothesis that disrupted AR activation in AIS may also be caused by a defect in a co-factor of AR-activity. However, so far mutations in AR co-factors leading to AIS have not been ide...