Endocrine Abstracts

Background: Diabetes mellitus, hypovitaminosis D, and non-alcoholic fatty liver disease (NAFLD) are common medical conditions that share some risk factors, one of which is obesity. Both NAFLD and vitamin D deficiency have been linked to the development of metabolic syndrome and type 2 diabetes. The aim of this study is to evaluate the level of serum 25-hydroxy vitamin D [25(OH)D] in type 2 obese diabetic Egyptian patients with variable degrees of hepatic steatosis.<p class...

Background: The diagnosis of growth hormone deficiency (GHD) is based on a combination of clinical suspicion supported by growth hormone stimulation testing. IGF-1 and IGFBP-3 are used as supportive markers. Reports over the last decade have examined the performance of IGF-I and IGFBP-3 in the diagnosis of GHD. It is important that each unit evaluates the utility of these markers in the assay used by their laboratory based on relevant normative data.Aim:...

In our institution, an observed loading dose of oral colecalciferol (D3) 300 000 units is used for treatment of vitamin D deficiency (Vit D <30 nmol/l), with subsequent re-evaluation at 6 weeks and 3 months. We evaluated the follow-up of all the patients who received loading dose colecalciferol against adherence to this protocol.Method: All patients who received observed loading dose of colecalciferol for a 1-year period were included. Demographic, c...

Autoimmune encephalitides are being increasingly recognised as important and potentially reversible non-infectious causes of the encephalitic syndrome. Myriad of clinical presentation and lack of symptom specificity leads to a wide differential diagnosis. Failure to diagnose the correct aetiology of an encephalitic syndrome can lead to significant morbidity and mortality. A 57 years old right handed female with no significant medical problems initially presented with left side...

Thyroid hormone resistance is a rare but recognised cause of clinical hypothyroidism. We explain a case of clinical hypothyroidism that was associated with thyroid hormone resistance.A 48-year Caucasian female with no known personal or family endocrine history was referred with a 12-month-history of weight gain and increased tiredness. Past history included depression and osteoarthritis, with regular medications being NSAIDs and amitryptiline. There was ...

A 35 year-old lady presented to her local hospital with a 3 year history of fatigue, weight gain, recurrent tonsillitis and oligomenorrhoea. Examination revealed facial plethora, round facies and thin skin on the dorsum of the hand. She appeared tanned, with evidence of spontaneous bruising and difficulty standing up from a chair unaided. No striae were present. Blood pressure was 152/91 mmHg. Investigations revealed a 0900 h cortisol of 632 nmol/l (ACTH 59 ng/l) and an elevat...

McCune-Albright Syndrome (MAS) is a rare congenital sporadic disorder due to an embryonic post-zygotic somatic mutation in the GNAS1 gene, defined by the triad of peripheral precocious puberty (PPP), unilateral café-au-lait spots and fibrous dysplasia (FD) of bone. PPP or precocious pseudopuberty is the most common endocrinopathy seen in MAS. Other hyperfunctioning endocrinopathies include hyperthyroidism, acromegaly, FGF23-mediated hypophosphatemia and neonatal hypercort...

Introduction: Middle ear disease in Turner syndrome (TS) is common, often resulting in troublesome temporary hearing loss, and more rarely to serious suppurative disease with cholesteatoma formation. We have examined the prevalence and pattern of middle ear disease in our TS clinic in relation to age and karyotype.Methods: Case note review of all girls with TS attending clinic 1989–2012, scoring the most serious middle ear problem for each as: none ...

Background: Paediatric thyrotoxicosis due Graves’ disease (GD)and Hashimoto’s thyroiditis (HT) disease is both more rare yet more severe than in adulthood. Antithyroid drug treatment (ATD) is with carbimazole or PTU either alone (dose titration (DT)) or with L-thyroxine (L-T4) – block and replace (BR).Methods: We have examined outcome of medical treatment in a cohort of patients treated from 1989 to...

Resistance to thyroid hormone (RTH) is usually due to heterozygous mutations in THRB gene with rare cases being homozygous for receptor defects. We describe an RTH case due to a homozygous TRβ mutation (R243Q).The Proband (male, 8.4 years), was born at term with low birth weight (1.9 kg) to consanguineous parents. He has a prominent nasal bridge, goitre, low body weight (10th centile), recurrent tonsillitis, hyperactivity and has mild hearing impair...