Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology Endocrine Update 2022

Society for Endocrinology Clinical Update 2022

Workshop B: Disorders of growth and development

ea0082wb1 | Workshop B: Disorders of growth and development | SFEEU2022

Delayed growth and puberty due to pituitary iron deposition from beta-thalassaemia major

Dales Jolyon , Bhake Ragini , Gohil Shailesh , Greening James

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 ...

ea0082wb2 | Workshop B: Disorders of growth and development | SFEEU2022

The many sequelae of sub-optimal control of CAH during adolescence

Shaikh Sheeba , Lewis Alexander

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 ...

ea0082wb3 | Workshop B: Disorders of growth and development | SFEEU2022

Giant prolactinoma in a prepubertal girl- challenges in the management

Costache Outas Mariana

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...

ea0082wb4 | Workshop B: Disorders of growth and development | SFEEU2022

Activating mutation of the Calcium sensing receptor as a cause of hypocalcemia

Qamar Sulmaaz , Baldeweg Stephanie

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...

ea0082wb5 | Workshop B: Disorders of growth and development | SFEEU2022

A rare case of Turner’s syndrome

Thant Aye Aye , Majeed Waseem

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...

ea0082wb6 | Workshop B: Disorders of growth and development | SFEEU2022

Functional Hypogonadotropic Hypogonadism presenting with delayed puberty and primary amenorrhoea

Ni Aung Nwe , Bujanova Jana

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....