Endocrine Abstracts

Spontaneous dizygotic (DZ) twinning results from a double ovulation and runs in families indicating a genetic component. Endocrinology studies in mothers of DZ twins observed higher levels of follicle stimulation hormone (FSH) and FSHB was, together with SMAD3, one the first loci identified as genome wide significant in genome-wide association studies (GWAS) of having DZ twins. Several additional loci were recently found that indicate genes involved with fema...

Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. The incidence of congenital adrenal hyperplasia (CAH) in the general population of Western countries is approximately 1 in 10,000 to 1 in 15,000 life births with about 95% of cases caused by 21-hydroxylase deficiency. After the introduction of replacement therapy with glucocorticoids and mineralocorticoids in the 1950s, congenital adren...

Adrenal insufficiency represents a sign and symptom of an underlying specific condition. A key diagnostic question is the differentiation between primary and secondary/ tertiary adrenal insufficiency (AI) to define the aetiology and manage the patient appropriately. The most common cause for primary adrenal insufficiency is congenital adrenal hyperplasia (CAH) representing a group of autosomal recessive conditions leading to glucocorticoid deficiency and other steroid hormone ...

Paediatric diabetes ranks amongst the commonest chronic diseases in childhood and affects about 23 000 children under 17 years. Acute medical management at manifestation is well established and successfully conducted in the vast majority of cases. The chronic long-term treatment is challenging and involves self-managed, regular subcutaneous insulin administration, together with diet, exercise and lifestyle support to avoid short and long-term complications. Glycaemic control i...

Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CAH have an increased...

Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. The incidence of congenital adrenal hyperplasia in the general population of western countries is ~1 in 10 000 to 1 in 15 000 life births with about 95% of cases caused by 21-hydroxylase deficiency. Several novel forms have been discovered in recent years involving all steps in steroidogenesis. The existence of milder or non-classic sub...

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Congenital adrenal hyperplasia (CAH) is one of the commonest forms of primary adrenal insufficiency with an incidence of about 1 in 15,000. Over 10 years ago, several studies highlighted the suboptimal health status and care provision in adults with CAH that were associated with significant co-morbidities in relatively young adults. The Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) supported by the Society for Endocrinology was formed in 2003 to study the healt...

Congenital adrenal hyperplasia (CAH) comprises a family of inherited autosomal recessive disorders of steroidogenesis, characterized by deficiency of cortisol and an accumulation of substrate precursors. CAH is most commonly caused by 21-hydroxylase deficiency, which causes virilisations of the external genitalia in females. In addition, deficiency of 11-hydroxylase and P450 oxidoreductase are also associated with virilisation of the external genitalia in females. Prenatal tre...

Dizygotic twinning is the result of fertilization of multiple follicles that develop during one ovulatory cycle. Significant factors contributing to natural DZ multiples are heredity, increased maternal age and higher parity. Older women are at higher risk for DZ twinning because they have a strongly increased risk of multiple follicle growth as a result of diminished ovarian feedback from the due to a smaller available cohort of follicles. FSH increases allowing all follicles...