Endocrine Abstracts

Summary: 59-year-old female diagnosed at the age of 41 in 2004 with pseudohypoparathyroidism (PHP) initially presenting with raised PTH 152 pmol/l (1.6-6.9), Phosphate 1.91 mmol/l (0.87-1.45), adjusted calcium 1.90 mmol/l (2.20-2.60), raised ALP 600 units/l (0-129) and low vitamin D 29 nmol/l. Since diagnosis started on alfacalcidol 1 mg daily and Calcichew-D3. Investigations by hepatology team in the view of persistently raised ALP showed normal liver ultrasound, Fibroscan an...

Case history: 48-years old man, with no comorbidities, presented to A&E due to global headache of 20 days duration, with associated intermittent vomiting, but no photophobia, cranial nerve impairment, neck pain or visual disturbance. The first head-scan (CT, computed tomography) was unremarkable, hence was discharged with safety advises. One week later, he represented to A&E with similar complaints. On enquiries, he mentioned to be reviewed by an optician 6 months ago,...

Introduction: Pituitary metastasis (PM) is a rare condition and associated with a reduced life-span. The most common primary sites are breast and lung, followed by thyroid and renal cell carcinoma. Patients with PM are mostly asymptomatic and incidentally discovered during neuroimaging. Characteristic symptoms are reported in <20% and most commonly include visual involvement, diabetes insipidus, and panhypopituitarism. We here describe a case with malignant melanoma (MM) w...

Introduction: Paediatric obesity is a growing concern for the health service. There is currently no consensus for routine screening of metabolic profiles and medical treatment in obese paediatric patients.Aims/methods: We aimed to determine medium-term outcomes of Metformin treatment on BMI, glucose and insulin levels in obese paediatric patients. In a retrospective review, data were collected from obese paediatric patients on Metformin for insulin resis...

Introduction: There is limited data on the psychological sequelae of obesity in paediatric patients.Aims/methods: We aimed to assess the prevalence of psychological comorbidities in obese paediatric patients. Internationally validated self-report questionnaires were offered to 19 patients and their parents from a tier three paediatric obesity clinics. These included the Paediatric Index of Emotional Distress (PI-ED); Beck Youth Inventory exploring self-p...

Background: Harrington et al.1 suggest that basal LH of ≥0.3 IU/l as measured by ICMA (Immulite 2500) has 100% specificity and 90.5% sensitivity in identifying progressive central precocious puberty (CPP).Aims: To examine the utility of basal LH measured with the DELFIA assay for identifying CPP in girls.Methods: All girls under age 9 years (median 7.3 years) investigated for precocious puberty with a GnRH...

Introduction: Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder in the general population, with a prevalence of 0.1 to 0.4%, caused by a solitary parathyroid adenoma in 80 to 85% of cases. In pregnancy, however, it is rare and usually manifests with non-specific symptoms leading to the delay in diagnosis A 33-year-old female patient who wasreviewed in obstetrics clinic at 15/40 weeks gestation. She complained of body aches, intermitted nausea and v...

Background: The standard dose Synacthen test (SDST) is commonly used to identify glucocorticoid deficiency. A subnormal SDST in young infants raises the possibility of adrenal insufficiency (AI) due to pathology such as congenital adrenal hyperplasia (CAH). A physiological delay in maturation of adrenal glucocorticoid secretion may be another explanation especially in asymptomatic infants with a transiently subnormal SDST.Aims: To review the diagnoses an...

Adrenal insufficiency (Adr-I) and congenital adrenal hyperplasia (CAH) are important conditions requiring specialist attention and management. Recent CAH genotype–phenotype studies have linked mutations with enzyme functioning and disease severity. Accurate diagnosis for the cause of adrenal insufficiency and the genetic cause of CAH is vital as it impacts management and prognosis.Methods: We audited patients with Adr-I and CAH seen in outpatients f...

Background: 3-M syndrome is associated with severe proportionate pre- and postnatal growth restriction, and is caused by mutations in CUL7, OBSL1, or CCDC8 genes.Aims and methods: To define baseline growth and GH–IGF1 axis status as well as response to r-hGH in relation to mutation status in 3-M children, using retrospective analysis of data from clinical notes.Results: 50 individuals (19 CUL7, 19 <...