Endocrine Abstracts

The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male inter...

Generation of H2O2 at the apical membrane of thyroid cells is essential for iodination of thyroglobulin. Dual oxidase 2 (DUOX2) is the catalytic core of the thyroidal H2O2 generator, and its deficiency leads to congenital hypothyroidism (CH) in humans and mice. The Dual oxidase maturation factor 2 (DUOXA2) is a recently identified endoplasmic reticulum (ER)-resident protein required for expression of DUOX2 activity.<p class="abst...

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...

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...

Introduction: Craniopharyngiomas (CPs) are histologically benign tumours but are clinically associated with significant morbidity and mortality. Recurrence of CPs is known to influence mortality, but apart from the extent of surgical resection, no clinical characteristics have been shown to predict recurrence. Complete resection is difficult due to their infiltrative behaviour and unacceptable morbidity. Thus, predictors of risk of recurrence are needed....