Endocrine Abstracts

Introduction: The predominant management of beta-thalassemia major is repeated blood transfusions but this runs the risk of haemosiderosis leading to multiple endocrinopathies. Iron chelation therapy can reduce this risk, however universal access is poor. Case Presentation: An 18 year old male with “type 1 diabetes” was referred to Young Adult Diabetes Clinic having arrived to the UK from Syria 10 days previously. The only past medical history ...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can have multiple effects on growth, sexual development, fertility and overall health. Sub-optimal adherence to treatment regimens during adolescence and puberty can have lifelong consequences. We present the case of 20-year-old male who was diagnosed at birth. His parents are first cousins, and his two siblings also have CAH. Initial treatment comprised hydrocortisone and fludrocortisone and administration ...

We report a case of a peripubertal 11 yr old girl with a diagnosis of macroprolactinoma. She was diagnosed 1,5 years before her presentation in our clinic in the context of headache. At the diagnostic, the MRI described a moderate enhancing homogenous mass- of 27/16/14 mm -centred on the diaphragm sellae –extended laterally in the right cavernous sinus in contact with the left optic nerve, anterior in the posterior segment of the olfactory sulcus and inferior to the Meck...

Introduction: Calcium sensing receptor (CaSR) plays a role in calciotropic processes by regulating parathyroid hormone secretion and urinary calcium excretion. Activating mutation of the CaSR, with heterozygous gain in function, causes autosomal dominant hypocalcaemia 1 (ADH1), a rare disorder with a prevalence of 3.9 per 100,000. Aggressive treatment to normalise serum calcium causes nephrocalcinosis and hypercalcaemia. We present a case of a 27-year-old female with CaSR muta...

Introduction: Primary amenorrhea is usually caused by either gonadal or anatomical abnormalities. Turner’s syndrome (TS) is the result of partial or complete absence of X chromosome in females with an incidence of 1 in 2500 live female births. Mullerian agenesis due to Mayer-Rokitansky-Hauser syndrome (M-R-K-H syndrome; embryonic underdevelopment of the vagina with variable uterine development) has an incidence of 1 in 5000 females and can be mistakenly diagnosed in patie...

18 year old student was referred by the Gynaecology team with primary amenorrhoea, delayed puberty, and minimum breast development. History: The patient was born by an emergency caesarean section with a birth weight of eight pounds and four ounces. She had a normal development during infancy and childhood and there was no reported developmental delay in the family. She had adrenarche at the age of ten with a normal appearance of axillary and pubic hair....