ESPE Abstracts

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate endocrine features of patients with SOD, and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 130 patients: 102 SOD and 28 MPHD followed at a single tertiary centre. SOD were divided into two groups: with pituitary hormone deficiencies (SOD+, n=83) and...

Background: Third generation aromatase inhibitors have been used to increase predicted adult height (PAH) in boys but in girls only in McCune–Albright syndrome.Objective and hypotheses: We overcame the theoretical concern of secondary hyperandrogenism by combining anastrazole to an LHRH analogue in a 6-year prospective study to test whether the combination therapy could significantly improve PAH compared to inhibition of puberty alone.<p class="...

Background: Strong association of early postnatal catchup growth in SGA with higher leptin levels and increased risk of insulin resistance has been described.Objective: To determine leptin levels in term small for gestational age (SGA) children at 15–18 months age and assess their relationship with postnatal catchup growth (CUG).Methods: Birth and current weight and length of 60 term SGA (<10thpercentile) childr...

Background: Small for gestational age (SGA) children, especially those with postnatal catchup growth, have increased risk of insulin resistance and adult metabolic diseases. Adipokines produced by adipose tissue play crucial role in fetal growth and early postnatal life. Low adiponectin (adipokine) is marker of insulin resistance.Objective: To evaluate adiponectin levels in term SGA at 15–18 months age and its relationship with postnatal catchup gro...

Background: Obese children are known to be at high risk for vascular complications and there is paucity in Indian literature regarding the onset and magnitude of vascular complications. Carotid intima media thickness (cIMT) and Brachial artery distensibility are known to predict future atherogenesis.Objective and hypotheses: To compare vascular parameters of obese children aged 5–18 years with age and sex matched controls and its relationship with p...

Background: Childhood obesity associated with risk of developing metabolic syndrome (MetS) and paucity in Indian literature regarding correlation between clinical and biochemical parameters in obese and MetS.Objective and hypotheses: Comparing clinical and biochemical correlation of obese children, controls and MetS.Method: Eighty children (40 obese and 40 age and sex matched controls) 5–18 years recruited after approval by In...

Patients and Methods: We analyzed 135 primary operated craniopharyngioma (CP) patients and 75 CP patients, received radiotherapy/radiosurgery in 2005-2012. Neurologic, endocrine, visual functions, quality of life (QofL) and neuroimaging data before and after treatment were assessed.Patients were divided in 2 groups according to CP location: 48,5% endosellar (ESCP), and 51,5% suprasellar (SSCP). Surgical treatment included tumor e...

Background: Congenital adrenal hyperplasia (CAH) is a group of inborn errors of steroidogenesis. It is mainly caused by steroid 21-hydroxylase coding gene (CYP21A2) mutations. More than 30% of the CYP21A2 mutations are deletions, with ethnic specific differences. The Bulgarian mutational spectrum of CYP21A2 gene is unknown.Objective and hypotheses: To determine CYP21A2 mutation spectrum in Bulgarian CAH patients.<p...

Responsiveness to recombinant human growth hormone (rhGH) treatment in Turner syndrome (TS) is highly variable. Previous research has characterised genetic variants associated with rhGH response but these only have a minor impact. The relationship of these genetic variants to the blood transcriptome is unknown. The aim of this analysis was to relate unsupervised baseline blood transcriptome and genetic data from TS patients to their phenotype, karyotype and responsiveness to r...

Paraneoplastic Cushing syndrome is extremely rare. To date, there are few reported cases related to Wilms' tumor. We describe a patient who presented with Cushing syndrome and was subsequently found to have Wilms' tumor. Our patient is a 9 year-old boy, who presented with hyperphagia and excessive weight gain for 3 months. His abdomen was also progressively bigger. There was no ingestion of steroids or traditional medication. Subsequently he sought medical advice becau...