Endocrine Abstracts

Introduction: Bloom syndrome (BS) is a rare autosomal recessive disorder caused by mutations in the BLM gene. Classic dysmorphic features include a long, narrow face, micrognathism and prominent nose and ears. Other features of the disease include pre- and post-natal growth failure, skin rash following sun exposure, hyper-pigmented areas or cafe-au-lait lesions, high-pitched voice and immunodeficiency. The most serious complication of BS is the significant increase in...

A 77 year old gentleman was referred to the endocrinology team following the incidental finding of an adrenal nodule on computer tomography (CT) colonography. Following this, dedicated CT of the adrenal showed a 4cm nodule with an attenuation of 30 Hounsfield Units. Biochemical investigation found no evidence of adrenal insufficiency or functional hormone production. Subsequent imaging by magnetic resonance imaging (MRI) and further CT showed stable appearances in size of the ...

Primary adrenal insufficiency, Addison’s disease, is a rare endocrine disorder. Early diagnosis is often difficult and the presentation is commonly only recognised after a life threatening adrenal crisis. Fortunately, with appropriate early treatment further complications are uncommon in the acute setting. This case concerns a 19-year-old man who presented with lethargy, dyspnoea on exertion and a one month history of hyperpigmentation. He had a history of nocturnal enure...

Background: Growth hormone insensitivity (GHI) is a continuum defined by normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is poorly characterised and is frequently underdiagnosed. Heterozygous dominant negative (DN) gene variants located in the regions encoding the intracellular/transmembrane domains of the GH receptor cause a ‘non-classical’ GHI phenotype.Hypothesis/Objective: Detail...

Case history: Two unrelated male patients were referred for evaluation of short stature. The first patient aged 16.5 years, had a birth weight of 2.6 kg at term (BWSDS -2.4), height 153 cm (HSDS -3.2) at referral and normal BMI SDS of 0.6. He had early postnatal hypoglycemia, which was conservatively managed, but no other significant clinical history. He had relative macrocephaly and disproportionate short stature. His mother was also short with a similar phenotype (height 147...

Introduction: Growth Hormone Insensitivity (GHI) is characterised by a triad of short stature (SS), IGF-1 deficiency and normal/high GH levels. ‘Classical’ GHI due to homozygous exonic GHR mutations results in extreme SS with dysmorphic and metabolic abnormalities. Heterozygous exon 9 GHR mutations are rare and exert dominant negative effects due to impairment of GHR dimerization/downstream signalling associated with a milder GHI phenotype. Only sev...

Hypercalcaemia in pregnancy is a rare but important finding, given the associated potential risks to mother and baby. These include hypertension, pancreatitis, nephrolithiasis and renal failure in the mother and intrauterine growth restriction, neonatal hypoparathyroidism/hypocalcaemia and stillbirth in the baby (1). We present the case of a 26-year-old female with a background of PTH-independent hypercalcaemia of unknown aetiology. This was initially detected at age 6 months ...