Endocrine Abstracts

Background: Cystic lymphangiomata are rare benign tumours of childhood resulting from an abnormal development of the lymphatic system, most of which occur in the head and axillary region, referred to as cystic hygromas. Lymphangioma arising in the abdomen are particularly rare and the symptoms are variable. They usually affect boys and can be associated with specific genetic abnormalities, most notably Turners syndrome.Case: We report the case of a 14-ye...

The patient now aged 28, was seen at the age of 8 years by an ophthalmologist when he fell down stairs and complained that he could not see from his right eye. He was confirmed to have optic disc hypoplasia in his right eye with acuity of 2/60. A CT scan of his head was reported normal. He was also short statured with his height being on 3rd centile. He was suspected to have partial growth hormone deficiency on the basis of insulin tolerance test and patient was placed on grow...

Sarcoidosis is a rare multisystem granulomatous disease that most commonly affects the lungs and skin, and can also affect eyes and lymph glands. We describe an unusual case of sarcoidosis presenting with hypercalcemia, causing diagnostic challenges. A 5year old boy was incidentally found to have asymptomatic hypercalcaemia during a routine clinic review for failure to thrive. Apart from a recent Influenza A infection, when he was found to have normal calcium levels and severe...

Background: Pseudohypoparathyroidism type 1a (PHP1a) is a rare disorder caused by a maternally inherited mutation in the GNAS gene. PHP1a is usually diagnosed in childhood due to a distinctive phenotype that includes short stature, brachydactly, ectopic ossifications, and multi-hormone resistance. These features are associated with resistance to parathyroid hormone (PTH).Case: We report the case of a 3.4-year-old boy who presented with a general...

Aim: Audit was undertaken to study patient profile, prevalence, treatment choice and interrelation between biochemical markers in vitamin D deficient children.Methods: Retrospective review of case notes for patients who had vitamin D measured over the period 5/2005 and 5/2010.Results: Study included 150 randomly selected patients from a total of 336. 99 (66%) were found to be deficient in vitamin D, 52 females and 47 males. Peak ag...

Familial glucocorticoid deficiency (FGD, OMIM#202200) is a rare autosomal recessive disorder characterised by adrenal resistance to the action of ACTH, with isolated glucocorticoid deficiency. Recently, mutations in NNT, encoding the mitochondrial anti-oxidant nicotinamide nucleotide transhydrogenase have been reported to cause FGD.Our index case, from a highly consanguineous Kashmiri family, was diagnosed with adrenal insufficiency during a sep...

Background: Novel pathogenic mechanisms involving replicative and oxidative stress have recently been described in familial glucocorticoid deficiency (FGD); including mutations in NNT. NNT supplies high concentrations of NADPH needed by the glutathione and thioredoxin anti-oxidant systems to detoxify mitochondrial H2O2.Six patients, from a consanguineous Kashmiri family, were diagnosed with glucocorticoid deficiency between...

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...