Endocrine Abstracts

Introduction: Previous UK study (2009) showed that parents rather than school staff were responsible for supporting the majority of children with insulin administration (IA) whilst at school. Since then, the law has changed and the Children and Families Act 2014 (UK) places a legal duty on schools to provide the right care and support.Objective: To establish what support & facilities are available to Children & Young people (CYP) with TID whilst ...

Introduction: Testosterone(T) is converted to dihydrotestosterone(DHT), the most potent androgen, by the enzyme 5alpha-reductase type 2(SRD5A2). During foetal development, the masculinisation of male external genitalia crucially depends on DHT. Pathogenic variants in SRD5A2 cause 46,XY differences in sex differentiation(DSD). Early and accurate diagnosis is paramount to facilitate gender assignment since most reared as females may profoundly virilize at pubert...

Androgen excess in women is most commonly caused by polycystic ovary syndrome (PCOS), but sinister ovarian and adrenal pathology requiring immediate action needs to be excluded. Here we examined whether the severity of androgen excess indicates the likely underlying pathology in women evaluated for androgen excess.We included all women undergoing assessment of serum DHEAS, androstenedione (D4) and testosterone (T) by liquid chromatogra...

Androgen excess in women is most commonly caused by polycystic ovary syndrome (PCOS), but sinister ovarian and adrenal pathology requiring immediate action needs to be excluded. Here we examined whether the severity of androgen excess indicates the likely underlying pathology in women evaluated for androgen excess.We included all women undergoing assessment of serum DHEAS, androstenedione (D4) and testosterone (T) by liquid chromatogra...

Background: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. The hallmark feature of PORD is combined sex-steroid and glucocorticoid deficiency due to impairment of CYP17A1 and CYP21A2. Skeletal malformations resembling the Antley-Bixler Syndrome phenotype are common i...

Introduction: Language barriers can pose a significant barrier to successful education of children and young people (CYP) with type 1 diabetes (T1DM) and their families, potentially influencing their glycaemic control.Methods: Retrospective analysis from diagnosis to 18 months post diagnosis of glycaemic control in 41 CYP with T1DM requiring interpreter support (INT) under care of our diabetes centre based within a multi-ethnic community. Median HbA1c at...

In humans, androgen synthesis crucially depends on the enzyme CYP17A1 expressed in adrenals and gonads. The 17,20 lyase activity of CYP17A1 catalyses the key step in human androgen biosynthesis, the conversion of 17-hydroxypregnenolone to the universal sex steroid precursor dehydroepiandrosterone (DHEA). For its catalytic activity, CYP17A1 requires electron transfer from P450 oxidoreductase (POR). Mutations in CYP17A1 and POR are known to disrupt human androgen s...

A key component of androgen synthesis is the availability of the pro-hormone DHEA, which is either converted to active androgens or inactivated to its sulfate ester DHEAS by DHEA sulfotransferase (SULT2A1). The latter reaction requires provision of the universal sulfate donor 3′-phosphoadenosine-5′-phosphosulfate, PAPS. In humans, PAPS is generated by the PAPS synthase isoforms PAPSS1 and PAPSS2. Recently, inactivating PAPSS2 mutations have been identified i...

Introduction: Early-onset androgen excess commonly presents in pre-pubertal girls as premature adrenarche (PA). Girls with PA have clinical signs of androgen excess, such as pubic/axillary hair, body odour, greasy hair, and moderately elevated adrenal androgens before their 8th birthday. There is conflicting evidence if girls with PA are at higher risk to have or develop metabolic dysfunction, or progress to developing Polycystic Ovary Syndrome (PCOS), the mos...

Introduction: FKBP prolyl isomerase 4, encoded by the gene FKBP4, is a member of the FK506-binding protein family and is presumed to be a regulator of the androgen receptor (AR) pathway. Mutations in FKBP4 have been proposed to cause Androgen Insensitivity Syndrome (AIS), with only one case reported in the literature so far.Aim: To report the clinical, biochemical and genetic findings in an infant with 46, XY DSD a homoz...