Endocrine Abstracts

A 17 year-old female was referred to Endocrinology with primary amenorrhoea and arrested puberty (B4 PH4 AH2). She reported breast development in line with her peer group and had experienced a single “show” of vaginal spotting aged 15 years. Although guidelines recommend baseline pelvic USS in the investigation of primary amenorrhoea, it generally only adds value in females with high LH+FSH and abnormal karyotype; indeed, it may raise undue concerns of uterine (Mulle...

Female with primary hypogonadism have inadequate function of the ovaries, with impaired production of germ cells (eggs) and sex hormones (oestrogen and progesterone). We recently came across a 22-year old female with short stature in childhood and adulthood she received growth hormone treatment (due to arrested puberty) between 3-5 years of age and further treatment at age of 10 years. She had history of IUGR, primary amenorrhoea, sensorineural deafness, congenitally missing t...

A 59-year-old woman with 46XY complete androgen insensitivity syndrome was referred back to our service. She also has history of hypertension and migraines. She was gonadectomised at the age of 15 years and treated with Ethinylestradiol. She married and was able to have enjoyable sex without the need for vaginoplasty or dilators. However, at 54 years she was firmly advised to stop Ethinylestradiol due to satisfactory bone density and “risks of HRT outweighing benefits&#14...

Introduction: NF1 or Von-Recklinghausen’s disease, an autosomal dominant neuro-cutaneous disorder results from NF1 (a tumour-suppressor gene) mutation, predisposing to neoplasms mainly affecting eye, skin and nervous system but rarely pheochromocytoma (0.1-5.7%). The incidence increases to 20-50% if NF1 is associated with hypertension.Case history: 30 years female, known NF1 since 2005 and multiple laparotomies for intra-abdominal neurofibromas pres...

Diagnostic work-up for Cushing Syndrome (CS) can be challenging and is based on clinical and biochemical assessment. Biochemical evidence of endogenous steroid excess is demonstrated through overnight dexamethasone suppression test (ODST), low dose dexamethasone suppression test and/or 24-hour urinary free cortisol estimation (UFC). Once endogenous steroid excess is confirmed, random serum ACTH measurement is key in determining the suspected source of steroid excess: ACTH-inde...

Introduction: Paraneoplastic endocrine syndrome such as hypercalcemia in malignancy is well-known. However, paraneoplastic insulin resistance is rarely described and its management is challenging.Case history: A 33 years old teetotal gentleman with BMI of 37.5 kg/m2 and histological diagnosis of desmoid tumour presented with osmotic symptoms, weight loss, hyperglycemia and normal ketones. He was hemodynamically stable with no clinical or bioch...

Thyroid storm is rare and life threatening manifestation of thyroid hormone excess. It has high mortality rate with delayed treatment. As early intervention is associated with improved patient outcome, prompt diagnosis based on clinical grounds is of paramount importance. We present a case of thyroid storm which was different in terms of absence of fever on presentation, presence of thrombocytopenia and deranged cholestatic LFTs which resolved after treatment of thyroid storm....