Endocrine Abstracts

Introduction: Pancreatogenic diabetes (Type 3c diabetes-T3cDM) is rare in children, and frequently underdiagnosed. The prevalence is 5–10% of all adult diabetes cases in the developed world. Over 78% of people with T3cDM have chronic pancreatitis.Case: A 15-year old presented with polyuria, polydipsia, abdominal pain, weight loss (WL) and a three-generational family history of type-1 (T1DM) and type-2 diabetes mellitus (T2DM). Examination revealed m...

Introduction: A biochemical profile of an underactive pituitary gland allied to visual field loss is commonly due to an underlying adenoma. We report a case where such a clinical picture was found but imaging/biopsy revealed a different cause.Case report: A 52-year-old Indian male was referred by his GP to an endocrine outpatient department with reduced visual acuity, balance problems and a biochemical profile of an underactive pituitary gland. Past hist...

Introduction: Thyrotoxicosis is a common condition referred to endocrine clinics. However, not all of them needed treatment with antithyroid medications. We report a case of thyroid hormone resistance due to a novel TSHRβ mutation who has been treated with subtotal thyroidectomy and antithyroid medications due to raised T4 levels.Case report: A 38-year-old south Asian woman was seen in orthopaedic clinic for elective right foot scarf oste...

Subcutaneous fat necrosis (ScFN) of the newborn is an uncommon self-limiting panniculitis, often associated with a complicated delivery. Hypercalcaemia can be a major complication, usually occurring within the first 6 months of birth and this may result in irritability, constipation, nephrocalcinosis, seizures and sometimes even death. Treatment options are variable with a number of different regimens including intravenous fluids, loop diuretics, prednisolone and bisphosphonat...

Introduction: Adrenal hypoplasia congenita (AHC) is often difficult to differentiate from congenital adrenal hyperplasia in the early stages of life. Both can present with severe salt-losing crises, and in some cases, even sudden, unexpected death. In particular there tend to be no abnormalities of the genitilia in AHC thus delaying a possible diagnosis. In the autosomal recessive form of AHC, the absence of a recognised single gene mutation can cause significant difficulties ...

IntroductionIsolated TSH (thyroid stimulating hormone) deficiency has been reported in the literature as a rare condition. Only 60 cases have been reported so far since 1960. It has been defined as central hypothyroidism without evidence of any other pituitary hormonal deficiencies or evidence of any structural pituitary abnormality. We report 3 cases of suspected isolated TSH deficiency, 2 of which presented in a year to one endocrine centre.<p clas...

Aims.To quantify the reasons for undertaking TRH testing and whether it changed management.Methods.A standard protocol was utilised-normal TSH response is peak 5-20 mUper litre at 20 mins with 60-minute level falling by third off peak. Hospital notes of 53-pts undergoing their first TRH test between October 2000 and May 2004 were reviewed.Results.44 (83%) pts had ...

Hormonal therapies in the form of oestrogens, anti-androgens and progestogens are often used in the treatment of male-to-female transsexuals. We present the case of a 36 year old phenotypic male with karyotype 46XY who presented with normoprolactinaemic galactorrhoea likely to be related to prior oestrogen administration. He had been self-administering oestrogen and progesterone preparations continuously for 7 years (aged 26 - 33 years) in an attempt to develop female phenotyp...

Introduction: Childhood Adrenocortical tumours (ACTs) are rare neoplasms of the adrenal glands, accounting for 0.2% of all childhood cancers. Cases are mainly sporadic, but some mutations have been identified. ACTs are usually benign unilateral adenomas, but rare malignant carcinomas have poor prognosis. We present a case of adrenal insufficiency following a unilateral adrenalectomy for a functioning adrenocortical adenoma in a child.Case: A 15 month old...

Introduction: The Flash glucose monitoring system (FGS) has recently received a licence for children and young people aged 4–17 years with Type 1 diabetes (T1D) in the United Kingdom. Although many families attending a single UK diabetes centre reporting utilising FGS even prior to its licence we aimed to assess the patient experience.Methods: Patients and families were invited to undertake a 14 day FGS trial following group introductory sessions. 8...