Endocrine Abstracts

Background and aims: We previously reported BMI heritability in the UAE to be 39.9%; indicating a high (60.1%) contribution of environmental factors to obesity. This study aims to determine and compare co-twin monozygotic (MZ) and dizygotic (DZ) BMI concordances.Materials and methods: 200 twin pairs were identified (ICLDC patient database) and split into two age groups (≤18 and >18 years old). Opposite gender twin sets were considered DZ. In same g...

Introduction: Causes of Primary Congenital Hypogonadism in Males are Leydig cell Agenesis, Cryptorchidism, Chromosome abnormalities (e.g. Klinefelter syndrome, SRY positive 46 XX etc), Enzyme defects include 5α-reductase deficiency. Acquired Primary Hypogonadism includes Testicular torsion, Orchidectomy, Chemotherapy/Radiation toxicity, Orchitis, CKD, Cirrhosis, Sickle cell disease, etc. SRY (SEX determining region Y) is regulatory gene located on Y chromosome and is resp...

Case history: A 28-year-old female was investigated for hypocalcaemia. Her calcium level was checked because her mother was found to be hypocalcaemic post thyroidectomy for recurrence of Graves disease. Further detailed history taking revealed that the patient’s grandmother often complained of hand cramps on kneading dough. The patient’s aunt was believed to have a parathyroid disorder; no further details were available. On further investigation, it was apparent that...

Case History: A thirty year old female presented to hospital after a first seizure. She had no significant past medical history. She had a one week history of recurrent frontal headaches and had noticed irregular periods. There were no clinical features of acromegaly. CT and MRI brain imaging showed a 5 cm mass arising from the pituitary fossa, extending into the suprasellar cistern and anterior cranial fossa. There was evidence of mass effect on the optic nerves and optic chi...

Introduction: Primary thyroid lymphoma (PTL) is a rare cause of malignancy, accounting for <5% of thyroid malignancies and < 2% of extra-nodal lymphomas. Most thyroid lymphomas are non-Hodgkin’s lymphomas of B-cell origin. Patients with Hashimoto’s thyroiditis are at greater risk for developing PTL. Early diagnosis is important as treatment and prognosis of PTL depend upon the histology and stage of the tumour at diagnosis. We report a rare case of primary th...

Introduction: Primary thyroid lymphoma (PTL) is a rare cause of malignancy, accounting for <5% of thyroid malignancies and < 2% of extra-nodal lymphomas. Most thyroid lymphomas are non-Hodgkin’s lymphomas of B-cell origin. Patients with Hashimoto’s thyroiditis are at greater risk for developing PTL. We report a rare case of primary thyroid lymphoma in a patient presenting with a rapidly enlarging thyroid goitre highly suspicious of anaplastic thyroid carcinom...

Klinefelter syndrome (KS) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The phenotype is variable ranging from ‘nearnormal’ to a significantly affected individual. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty.Patients and methods: This is an 8-year retrospective study of the cli...

Germline mutations in the succinate dehydrogenase subunit-B gene (SDHB) are well recognised for predisposing to head and neck paraganglioma, sympathetic paraganglioma, phaeochromocytoma and renal cell carcinoma. The co-existence with pituitary adenomas remains uncommon.We report a 31-year-old female who presented at age 29 years old with 9 months of secondary amenorrhoea. Prolactin was 3000 mIU/l and a 1.7-cm macroprolactinoma revealed on MR pituitary. T...

DIPNECH is pre-invasive precursor to carcinoid tumors and tmorlets, most of which present with pulmonary symptoms. We present a case of ectopic cyclical ACTH producing DIPNECH.33-year lady presented with a short history of weight gain, abdominal striae, proximal myopathy and secondary amenorrhoea. She reported a previous episode with similar symptoms one year earlier which resolved spontaneously after a few weeks. Random cortisol 4000 nmol/l, ACTH 98 ng/...

Phaeochromocytoma and paragangliomas (PH/PG) are rare neuroendocrine tumours. Prediction of aggressive tumour behaviour remains a major challenge. The Phaeochromocytoma of the Adrenal gland Scaled Score (PASS) is used to separate benign from malignant lesions with a score > 4 showing potential for biologically aggressive behaviour. Pre-operatively, MIBG together with CT/MRI remain the diagnostic radiological gold standard.We report a 68-year-old fema...