Endocrine Abstracts

Introduction: The management of Craniopharyngioma is associated with significant long-term morbidity. We retrospectively assessed the endocrine, hypothalamic and neuro-developmental morbidity (at most recent clinic review) in survivors of Craniopharyngioma diagnosed between 1/01/98 and 31/12/09, and currently being managed at our centre.Methods: We identified 63 patients in our cohort of which 25 were randomly selected for analysis (11 males, 14 females)...

Background: Premature pubic hair development, with or without manifestations of androgen production, is a common clinical presentation. Premature adrenarche (PA) needs to be differentially diagnosed from congenital adrenal hyperplasia (CAH) and may be associated with early development of puberty.Aim: To study the characteristics at presentation, endocrine profile and outcome of patients who presented with premature pubic hair development. We studied retr...

Introduction: The Autoimmune Polyendocrinopathy Syndromes (APS) comprise 4 clinical subtypes (1–4), APS type 1 is an autosomal recessive disorder caused by mutations in the AIRE (Autoimmune Regulator) gene. It should include at least 2 of the following 3 major criteria: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT) and adrenal insufficiency (AI) although 50% of patients develop all 3 features, usually before the age of 20 years. In addition, there are ...

Introduction: There is a large body of evidence to suggest that the GH axis plays an important role in brain myelination. However, results from studies in humans with an abnormal GH axis have varied and therefore there remains no consensus as to whether the GH/IGF1 axis plays a significant role in neural development. No previous studies have used diffusion tensor imaging (DTI) a sensitive magnetic resonance imaging (MRI) technique for studying brain white matter tracts, to add...

Background: GH deficiency is associated with reduction in IQ and neural volumes (globus pallidum and thalamus). Significant relationships between IGF1, IGFBP3 and brain volumes have also been described in children born extremely preterm (total brain volume and cerebellum). No published studies report the relationship between markers of GH status and brain volumes in healthy children.Methods: Cognitive assessment, MRI brain and measurement of IGF1 and IGF...

Background and aim: Achondroplasia (ACH) is one of the commonest skeletal dysplasias affecting 1:15 000–1:40 000 live births. The average attained adult height is 131±5.6 cm for men and 124±5.9 cm for women. Previous studies have shown that the use of rhGH may result in transient increase in the growth rate, but there have been no long-term data regarding adult height. We aimed to study a cohort of patients with ACH and other skeletal dysplasias who have been tr...

The superfamily of ~25 human selenoproteins includes antioxidant and oxidoreductase enzymes together with other proteins of unknown function. We describe a child with a multisystem disorder involving deficiencies of several selenoproteins, identified on the basis of abnormal thyroid function.A 3.6-year-old male was referred with elevated free thyroxine (FT4 – 44.4 pmol/l (N 12–22)), low free triiodothyronine (FT3 &#...

Background: Accurate genetic diagnosis is essential in disorders of sex development (DSD), guiding medical management and enabling optimal personalized care delivery.Case presentation: Two siblings (I and II) with a family history of 17β-hydroxysteroid dehydroxygenase (17β-HSD3) deficiency presented postnatally with isolated labial swelling. Karyotype was 46,XY and urinary steroid profile (USP) normal. HCG-stimulated testosterone/androstenedion...

Background and Aim: The development of the pituitary gland is closely linked to this of the eyes and forebrain, as they all originate from the same embryonic origin, the anterior neural ridge. The constellation of symptoms leading to septo-optic dysplasia (SOD) is well established; other ophthalmic signs may be under-reported. The aim of the study was to define if patients with hypopituitarism present with eye abnormalities, which are distinct from optic nerve hypoplasia (ONH)...