Endocrine Abstracts

Testicular dysgenesis syndrome (TDS) is a group of associated conditions (testicular germ cell tumours (TGCT), cryptorchidism, hypospadias and low sperm counts) that are thought to have a common origin in fetal life. Exposure of fetal rats to environmental chemicals such as the endocrine disrupting chemical di(n-butyl) phthalate (DBP) results in a TDS-like syndrome. However, exposed rats do not develop TGCT and the rodent is a poor model in this context. The effects of ...

Congenital hypothyroidism (CH), occurs with a frequency of one in 3–4000 and is most commonly due (85%) to complete or partial failure of thyroid gland development (dysgenesis). Several transcription factors (TTF-1/Nkx2.1, TTF-2/FOXE1, PAX-8), are highly expressed in the developing rodent thyroid. We first showed that the FKHL15 gene is the human homologue of TTF-2, identifying a homozygous, loss-of-function, mutation in two siblings with CH, thyroid agenesis, clef...

Adamantinomatous craniopharyngiomas (ACPs) are among the most common intracranial tumours in children and they originate from undifferentiated pituitary progenitors. Mutations in the gene encoding for β-catenin (CTNNB1), which lead to the constitutive activation of the Wnt/β-catenin signalling pathway, have been associated with ACP. These tumours can invade adjacent structures, such as the hypothalamus, which makes comp...

Idiopathic intracranial hypertension (IIH) is a condition of unknown aetiology characterised by raised intracranial pressure, chronic headaches and blindness. Akin to polycystic ovary syndrome (PCOS), IIH patients are almost exclusively obese females of reproductive age. A distinct androgen excess profile has been noted in PCOS. Here, we aimed to delineate androgen metabolism in IIH compared to PCOS and simple obesity.Women w...

Adamantinomatous craniopharyngiomas (ACPs) are among the most common intracranial tumours in children and they originate from undifferentiated pituitary progenitors. Mutations in the gene encoding for β-catenin (CTNNB1), which lead to the constitutive activation of the Wnt/β-catenin signalling pathway, have been associated with ACP. These tumours can invade adjacent structures, such as the hypothalamus, which makes comp...

Idiopathic intracranial hypertension (IIH) is a condition of unknown aetiology characterised by raised intracranial pressure, chronic headaches and blindness. Akin to polycystic ovary syndrome (PCOS), IIH patients are almost exclusively obese females of reproductive age. A distinct androgen excess profile has been noted in PCOS. Here, we aimed to delineate androgen metabolism in IIH compared to PCOS and simple obesity.Women w...

Serum concentrations of progesterone sulphates are raised in intrahepatic cholestasis of pregnancy (ICP), the commonest pregnancy-specific liver disease. Women with ICP have increased rates of gestational diabetes mellitus (GDM). We hypothesised that raised progesterone sulphates may modulate glucose homeostasis. Progesterone sulphates were assayed in serum samples from participants of the hyperglycaemia and adverse pregnancy outcomes (HAPO) study (n=79–94), and ...

Introduction: The prevalence of acromegaly in the general population ranges 4−14/100 000. 45−80% of acromegaly patients have obstructive sleep apnoea (OSA). The OSA population might represent a target group for earlier detection of acromegaly, thereby reducing associated long-term morbidity.Methods: Patients attending the sleep service (11/2014−04/2018) were recruited in a prospective multicentre cohort study. All had serum IGF-1 measur...

Previous studies demonstrated that n-3 polyunsaturated fatty acids (PUFA) reduce insulin resistance and non-alcoholic fatty liver disease (NAFLD). However, we previously reported that transgenic expression of the fat-1 n-3 desaturase, inducing the endogenous production of n-3 PUFA, improved insulin resistance but not hepatic steatosis in a mouse model of obesity. Thus, we compared the effects of increasing n-3 PUFA levels through oral or endogenous approaches in diet-...

Glucocorticoids (GC) are potent anti-inflammatory compounds, acting mainly through the glucocorticoid receptor (GR). GC therapy, however, has debilitating side-effects, necessitating safer new alternative therapies. The natural GC metabolite 5α-Tetrahydrocorticosterone (5αTHB) is anti-inflammatory in vivo in mice, but with fewer side-effects. Its mechanism of action is unknown, and here we test signalling via GR and the mineralocorticoid receptor (MR). 5&#94...