Endocrine Abstracts

Thyroid dysfunction and autoimmunity are associated with adverse fertility and pregnancy outcomes. International bodies recommend routine thyroid function screening in women with history of subfertility or miscarriage. Knowledge about the frequency of, and risk factors for, thyroid disease is limited in the asymptomatic preconception population. A prospective multi-centre study of women with history of miscarriage or subfertility conducted at 49 hospitals across the United Kin...

Within the last 25 years more than 400 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. In 1993 the first gene defect, in MC2R, was discovered by candidate gene sequencing. Subsequent...

Background: Primary adrenal insufficiency (PAI) is a rare, genetically heterogenous condition, characterised by hypocortisolaemia and high plasma ACTH levels in the presence or absence of mineralocorticoid deficiency. PAI can be life-threatening if unrecognised, misdiagnosed or under/untreated. Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive form of PAI characterised by isolated glucocorticoid insufficiency. Mutations in the MC2R/ACTH receptor, ...

Although classical and non-classical signaling of testosterone (T) has been observed in the testis, the enigma of the non-classical pathway is not fully resolved. While some researchers favor the androgen receptor (AR), others propose a membrane-bound receptor for non-classical T signaling. Although silencing of the AR in Sertoli cells (SC) resulted in infertility and suggested no involvement of the non-classical pathway, recent experiments using an inhibitor of the non-classi...

Background: We investigated the frequency of autoimmune thyroid and diabetes antibodies in patients with type 1 diabetes mellitus (T1DM), their siblings, and controls.Methods: Glutamic acid decarboxylase antibodies (GADA), islet cell antibodies (ICA), insulin autoantibodies (IAA), and thyroid antibodies were identified in all subjects.Results: The rates of positive GADA and IAA were significantly higher in probands compared to sibl...

Vitamin D-deficiency during pregnancy has been associated with increased complications of pregnancy including a high risk of pre-eclampsia (PET). Current analysis of vitamin D ‘status’ is based exclusively on analysis of maternal serum 25-hydroxyvitamin D3 (25(OH)D3), the circulating precursor form of vitamin D. We hypothesised that comprehensive profiling of vitamin D metabolites may provide a more accurate determination of vitamin D function i...

Mutations in CYP11A1, like those in STAR cause lipoid congenital adrenal hyperplasia manifesting with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system. Increased adrenal size is usually a feature of STAR but not of CYP11A1 mutation. Milder forms presenting without all of these features have also been described. We present six patients from four families with CYP11A1 mutations discovered by ...

Introduction: Elevated parathyroid hormone (PTH) levels are associated with increased cardiovascular diseases (CVD) in the patients with impaired kidney function. We aimed to investigate whether PTH levels are associated with CVD in persons without significant renal diseases.Methods: This is a cross-sectional study and we included 1951 Korean subjects aged ≥30 years (men 46.6%), who underwent 64-slice multidetector-row cardiac computed tomography (...

Introduction: In recent years a growing number of gene mutations have been identified which cause a myriad of syndromes having adrenal insufficiency as a core characteristic. The evolution of each syndrome is dependent on the variant and the particular gene affected. Common practice is for candidate genes to be sequenced individually, which can be time consuming and is complicated by overlapping clinical phenotypes. The increasing availability and cost effectiveness of whole e...

Familial glucocorticoid deficiency (FGD, OMIM#202200) is a rare autosomal recessive disorder characterised by adrenal resistance to the action of ACTH, with isolated glucocorticoid deficiency. Recently, mutations in NNT, encoding the mitochondrial anti-oxidant nicotinamide nucleotide transhydrogenase have been reported to cause FGD.Our index case, from a highly consanguineous Kashmiri family, was diagnosed with adrenal insufficiency during a sep...