Endocrine Abstracts

Models of estrogen insufficiency have revealed new and unexpected roles for estrogens in both males and females. These models include knockouts of aromatase in mice (the ArKO mouse) as well as of the estrogen receptors (ERKO mice). There are also a number of individuals with natural mutations in the aromatase gene, as well as one man with a mutation in the ERa receptor. Some of these roles of estrogens apply equally to males and females and do not relate to reproduction, for e...

In adipose tissue, estrogens are synthesized in the mesenchymal preadipocyte cells. This arises because aromatase, the enzyme responsible for estrogen biosynthesis is located in these cells as distinct from differentiated adipocytes. Regulation of aromatase expression in these cells is primarily due to a distal promoter, promoter I.4. Differentation of preadipocytes to the lipid-laden phenotype results in loss of aromatase transcripts coincident with increased PPARgamma expres...

An 82 year old lady was admitted with acute stroke on 3/1/18, confirmed on MRI. She was found to be in AF and had thyroid function tests checked on 4/1/2018, with TSH 0.01 (0.27–4.20) mIU/l and FT4 52.8 (12.0–22.0) nmol/l. She was commenced on Carbimazole 20 mg OD. TPO and TSH-receptor antibodies were both negative. An ultrasound scan confirmed a normal thyroid without any features of Grave’s disease or thyroid nodules. Clopidogrel 75 mg OD and Atorvastatin 40 m...

36F from Hungary with a h/o Graves disease in the past which was in remission since 2017 presented to ED at UCLH with a fast heart rate and acute weight loss. Feb 2020 presented with fast heart rate and FT4 84.9, TSH < 0.01. TPO Negative, TRAB raised at 6.5. Patient was commenced on 20 mg carbimazole and 20 mg TDS propranolol, referred to endocrine clinic. Patient missed her appointment in the endocrine clinic as she was in Hungary during the pandemic. June 2020: 15 weeks ...

Patients with congenital adrenal hyperplasia (CAH) require life-long, daily glucocorticoid hormone replacement therapy. Currently, there is no licensed treatment for young patients and existing treatment requires adapting adult doses by crushing tablets. As primary caregivers, parents of young children with CAH often take on the responsibility for routine medication and adapting doses in times of stress or illness. There has been little research to date exploring parents’...

Congenital adrenal hyperplasia (CAH) is a genetic condition associated with a deficiency in cortisol and an overproduction of androgens, requiring life-long, daily medication. Little is known about the psychosocial impact of living with and treating CAH, particularly for the parents of young patients. The study was conducted by Genetic Alliance UK as part of the European Commission funded Treatment of Adrenal Insufficiency in Neonates (TAIN) Project, which aims to develop a ne...

After the menopausal transition, the ovaries cease to make oestrogens, yet the incidence of breast cancer increases with aging and the majority of these tumours are ER positive. So, where is the oestrogen driving this tumour development coming from? Several extra-gonadal sites synthesize oestrogens from circulating C19 steroids, such as bone, brain, and adipose. The largest of these depots is the adipose tissue, and increased BMI is associated with increased breast cancer risk...

Maternal undernutrition has been demonstrated to impact upon the development of a number of organ systems, including the kidney and pancreas. Offspring exposed to a maternal dietary protein restriction during gestation exhibit livers with fewer, larger lobules, suggestive of a similar developmental defect. It has been previously suggested that developmental changes, at least in the kidney, might be mediated by a change in the expression of the transcription factor Prox1. Here,...

IntroductionDiabetic ketoacidosis (DKA) affects 1-3 percent of pregnancies complicated by diabetes but can result in significant morbidity and mortality for mother and foetus. Euglycaemia in DKA is a recognised but infrequent presentation. It was originally defined as initial blood glucose less than 16.7 millimol per litre and bicarbonate less than 10 millimol per litre.Case ReportA 29-year old female with ty...

IntroductionDiabetic ketoacidosis (DKA) affects 1-3 percent of pregnancies complicated by diabetes but can result in significant morbidity and mortality for mother and foetus. Euglycaemia in DKA is a recognised but infrequent presentation. It was originally defined as initial blood glucose less than 16.7 millimol per litre and bicarbonate less than 10 millimol per litre.Case ReportA 29-year old female with ty...