Endocrine Abstracts

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...

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...

The mineralocorticoid receptor (MR) is primarily involved in osmoregulation in mammals, with additional roles of brain-behaviour implicated. However, the understanding of this role is limited, partly due to the mortality of MR-knockout mice due to impaired Na+ reabsorption. Many steroidogenesis pathways and hormone receptors are highly conserved in zebrafish, providing a great potential to become a high-throughput model for translational endocrine research. My proje...

Background: There is wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Active users of the International Congenital Adrenal Hyperplasia &...

Sex development in zebrafish is highly plastic, making this species an ideal model for investigation of endocrine disruption and gonadal development and function. However, the hormonal regulation of these processes in zebrafish is poorly understood. We have used a model of androgen and glucocorticoid deficiency to explore these processes. In humans, ferredoxin (FDX1) is an electron-providing cofactor required for steroid biosynthesis. The zebrafish homologue of FDX1, ...

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...