Endocrine Abstracts

Background: Affected patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are often insufficiently informed about disease-specific aspects of reproduction. Reasons for lower fertility rates in female patients with CAH are hormonal dysregulations, anatomical changes resulting from virilized genital surgeries and psychosocial and psychosexual factors. Fecundity, however, is comparable to the normal population. Male patients with CAH also ha...

Thyroid eye disease usually occurs in patients with graves'hyperthyroidism although 5-10% of patients are euthyroid or are hypothyroid with positve TSH receptor binding antibodies. We describe a patient with primary hypothyroidism for 14 years prior to the onset of severe thyroid eye disease.A 61 year old lady with thyroid opthalmopathy was seen in the eye clinic.Previous history included diet controlled diabetes and primary hypothyroidism, adequately r...

Macroprolactin is a complex of prolactin with immunoglobulin appearing to have limited biological activity, partly due to failure of this high-molecular weight complex to cross capillary walls.Macroprolactinaemia is a common phenomenon, it is thus important to identify this condition in order to avoid unnecessary investigations and treatment. Although the presence of macroprolactin can be confirmed by gel filtration chromatography, this is time consumin...

Background: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is associated with ACTH-driven adrenal androgen excess. In women with classic CAH, this regularly causes prenatal virilisation of the external genitalia, commonly corrected by genital surgery during the first years of life. This practice, however, has been questioned and is discussed highly controversial. The aim of this study was to retrospectively assess the perspective of affected patients and...

We report a 29 year old man (staff nurse) who initially presented with a grand mal seizure in October-2003 to the neurologists. A preliminary diagnosis of epilepsy was made, though the subsequent EEG only revealed predisposition to epilepsy. In December 2004 he again presented with a grand mal seizure despite being on Epilim. He also complained of episodes of lethargy, sweating and inability to concentrate towards the end of his shifts at work for a few months prior to this. B...

ContextE47 is a transcription factor mostly known for its role in B and T cell lineage commitment. Recently E47 was identified as a modulator of glucocorticoid receptor target genes, its loss protecting mice from metabolic adverse effects of glucocorticoids. Patients with Cushing’s syndrome (CS) suffer from an endogenous glucocorticoid excess due to tumour formation associated with a variety of metabolic comorbidities seriously affecting patients&#1...

Background: In 2020, DSD-Care, a collaborative project involving endocrine reference centres, support groups, and research institutes in Germany was launched funded by the German Ministry of Health. The aim of the project was to improve the quality of care for people with differences in sex development (DSD), who often report feeling poorly treated by healthcare providers and a lack of access to detailed information about their condition. Congenital adrenal hyperplasia (CAH) i...

Background: Endogenous Cushing’s syndrome (CS) is associated with increased susceptibility to infections and mortality. Previously reported effects of hypercortisolism on immune function include a reduced CD4+/CD8+ ratio with a shift towards IL4+T helper cells (Th2), suppressed NK-cell cytotoxic activity as well as a low-grade inflammatory profile.Aim: This cross-sectional single center study aims to compare immune phenotype in patients with overt C...

BackgroundRoutine biochemical assessment in patients with congenital adrenal hyperplasia (CAH) includes measurement of serum 17–hydroxyprogesterone (17OHP), androstenedione (A4) and testosterone (T) and their metabolites in urine. Several studies have also described 11–oxygenated 19–carbon (110 × C19) steroids as a clinically relevant androgenetic source and highlighted their potential as markers for evaluation of adrenal androgen exc...

Background: Women with classic and non-classic (NC) congenital adrenal hyperplasia (CAH) often struggle with fertility, due to androgen excess, elevated progesterone and 17-hydroxyprogesterone (17OHP) levels, causing anovulation, impaired endometrial development and menstrual irregularities. The typical approach to addressing infertility so far, often involves an increase in glucocorticoid (GC) doses, yet this strategy carries potential side effects. Limited observational data...