ESPE Abstracts

Background: Pseudohypoparathyroidism (PHP) is a rare condition with heterogeneous presentation. It is divided in various subgroups depending upon the manifestations. Type 1a Pseudohypoparathyroidism usually presents with brachydactyly, short stature along with other manifestations of Albright’s hereditary osteodystrophy (AHO) like obesity, mental retardation. The basic pathology is resistance to hormonal actions associated with G protein coupled receptors due defective GN...

Background: Cerebrotendinous xanthomatosis (CTX) is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Usually, the diagnosis is delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.Objective and hypotheses: To diagnose and manage a case of cerebrotendinous xantho...

Background: Van Wyk Grumbach Syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudo-precocious puberty and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debre-Smeglaine Syndrome (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudo-hypertrophy, delayed contraction ...

Background: Type 1 diabetes mellitus is characterized by presence of several organ specific autoantibodies. Anti-cyclic citrullinated peptide (anti-CCP) antibody is a promising marker of rheumatoid arthritis (RA) which is known to coincide with autoimmune diabetes. Presence of these antibodies was not investigated in children with type 1 diabetes.Objective and hypotheses: To evaluate presence of anti-CCP antibodies in children with type 1 diabetes compar...

Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...

Background: Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. The incidence in term neonates is 0.00014-0.001%. The condition presents at extremes of childhood, at birth when maternal circulating hormones are raised and at menarche when oestrogen production commences. Pseudohypoaldosteronism (PHA)...

Background: Low vitamin D levels have been linked to stunted growth and lower bone mineral density. Vitamin D insufficiency is a recognised condition in children in the UK. However, optimal levels of vitamin D are not adequately defined and guidance regarding supplementation is also limited.Aim: To identify vitamin D levels in a select cohort of Caucasian children aged 0–16 years, and describe how preterm birth, obesity, age and malabsorptive condit...

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

Background: There is high prevalence of Vitamin D deficiency (VDD) in Hashimoto’s thyroiditis (HT) as reported in literature. However, it is uncertain whether VDD is a cause or effect of HT. The effect L-thyroxine replacement on vitamin D levels in children with HT has not been studied.Objective and hypotheses: To study vitamin D level of newly diagnosed children with HT and to observe the change in vitamin D level after L-thyroxine therapy.<p c...

Background: Diabetes mellitus is a late complication in glycogen storage disease type 1 (GSD1). Patients with GSD1 who are poorly controlled have prolonged periods of low glucose levels. As they grow older they become tolerant to these hypoglycaemic episodes, and may be mildly symptomatic or asymptomatic even with low glucose levels. This results in adaptive mechanisms, mediated through down regulation of glucose receptor on the β-cell membrane (GLUT2) to reduce insulin s...