Endocrine Abstracts

Introduction: Pregnancy under the age of 19 is considered high-risk1; and a pregnancy with diabetes at this age further increases that risk2,3. With the correct advice and counselling, these risks can be greatly reduced. Here we describe a strategy to raise awareness by addressing this as part of regular clinic visits.Method: Prior knowledge of potential complications of pregnancy was assessed as part of a clinical consultation. Evi...

University Hospitals Dorset (UHD) has over 1,000 thyroid patient contacts annually. These are primarily patients with autoimmune hyperthyroidism and are treated by titration of Carbimazole. Dose adjustments are made by a healthcare professional (HCP) based on the results of thyroid function tests. Once the test results are available, the HCP decides on a prescription dose and communicates this to the patient, which is time-consuming and introduces delays. This project aims to ...

Neonatal salt wasting can present in neonates with a life-threatening state of hyponatraemia, hyperkalaemia, dehydration and metabolic acidosis. The differential diagnosis of neonatal salt wasting includes congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency, pseudohypoaldosteronism (PHA), X-linked adrenal hypoplasia congenital (AHC) and aldosterone synthase defects. Diagnostic work up should include serum measurement of ACTH, Cortisol, 17OH-prog...

A 13 year old female presented with a two day history of abdominal pain and vomiting which responded to analgesia. Pelvic ultrasound showed complex ovarian cysts and a pre-pubertal uterus. Initial blood tests were consistent with hypergonadotrophic hypogonadism (LH 31.5 U/l, FSH 14.3 U/l and oestradiol <70 pmol/l) and karyotype was 46 XX. Bone age was slightly delayed (measured 12.4 years, chronological age 13.7 years). On referral to paediatric endocrinology, the patient ...

Craniopharyngioma is a rare embryonic malformation of the Sellar/parasellar region. This harbors BRAF-V600E mutations. There are 2 Subtypes-Adamantinomatous and Papillary. Point prevalence of CP is around 2/100,000 with no variance by gender or race. CP has bimodal age distribution with peak incidence in the ages of 5-14 and 65-74 years. CP presents with following clinical features: Symptoms due to increased intracranial pressure-Nausea, headaches, visual impairments, hormone ...

Background: Pituitary adenomas are the commonest Sellar neoplasm, there are number of other differential diagnosis based on histopathological features and immune histochemical characteristics. Pituicytomas are rare tumours of sellar and suprasellar region which originate from pituicytes which are specialised glial cells of neurohypophysis and infundibulum.Case report: A 63-year-old lady with a background history of bilateral cataract corrected with surge...

Reproductive morbidity is increased in women with diabetes, including a higher prevalence of polycystic ovary syndrome, hypothalamic amenorrhoea and premature ovarian failure. Routine discussion of reproductive and menstrual dysfunction for women with diabetes remains a peripheral feature of clinical consultations. Here we aimed to determine women’s own reproductive care experience. We surveyed women of all ages attending routine diabetes care using a detailed clinical qu...

Background and aims: Thyroid peroxidase antibody (TPOAb) positivity is prevalent in women of reproductive age and pre-disposes to thyroid dysfunction, namely hypothyroidism, which has adverse effects on pregnancy. The aim of this study was to report the rate of development of abnormal thyroid function among initially euthyroid TPOAb positive women recruited into TABLET trial. To also identify factors associated with the development of hypothyroidism and to compare outcomes bet...

Background: Hypoparathyroidism, a rare endocrine disorder characterised by low serum calcium due to low or insufficient parathyroid hormone levels, most commonly occurs post-surgery although can also occur due to predisposing genetic conditions or idiopathically. Hypoparathyroidism requires long-term medical management to minimise complications and detrimental impacts on health-related quality of life. Few real-world studies, particularly in the UK, have quantified healthcare ...

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...