hrp0089fc14.3 | Multisystem Endocrine Disorders | ESPE2018

Regulation of Salt, Sugar and Sex Steroids in Humans by Genetic Variations in NADPH Cytochrome P450 Oxidoreductase (POR) Identified in 1000 Genome Samples

Pandey Av Amit V , Udhane Sameer S , Parween Shaheena

A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-4). Human POR is a diflavin reductase that transfers electrons from NADPH to small molecules, non-P450 redox partners and cytochrome P450 proteins in the endoplasmic reticulum. Cytochrome P450 proteins perform a very wide range of reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic ...

hrp0089rfc1.2 | Adrenals & HPA Axis | ESPE2018

Changes in CYP19A1 and CYP3A4 Activities due to Population Genetic Variations in Human P450 Oxidoreductase

Parween Shaheena , Udhane Sameer S , Kagawa Norio , Pandey Amit V

Background: Cytochromes P450 proteins metabolize several steroid hormones, drugs and xenobiotics. All cytochromes P450s in the endoplasmic reticulum require P450 oxidoreductase (POR) for their catalytic activities. Earlier it has been shown that mutations in POR cause metabolic disorders of steroid hormone biosynthesis and also affect some drug metabolizing P450 activities. We aimed to characterize the mutations identified in nonclinical samples to access their effects on ster...

hrp0086p1-p362 | Gonads & DSD P1 | ESPE2016

Aromatase Activity is Disrupted by Mutations in P450 Oxidoreductase

Udhane Sameer S. , Parween Shaheena , Pandey Amit V.

Background: The steroidogenic enzyme aromatase (CYP19A1) is a protein located in endoplasmic reticulum (ER) that catalyzes the conversion of androgens to estrogens. Both deficiency and excess of aromatase activity lead to disease states implicating its role in human biology. Cytochrome P450 (CYP) enzymes in ER use reduced nicotinamide adenine dinucleotide phosphate through cytochrome P450 oxidoreductase (POR) for their metabolic activities. Mutations in POR cause disorders of ...

hrp0084fc10.4 | Perinatal Endocrinology | ESPE2015

Effect of P450 Oxidoreductase Variants on Metabolism by Cytochrome P450 Proteins

Parween Shaheena , Udhane Sameer S , Pandey Amit V

Background: A broad spectrum of human diseases including abnormalities in steroidogenesis is caused by mutations in the NADPH P450 oxidoreductase (POR). POR transfers electrons from NADPH to several small molecules, non-P450 redox partners and all microsomal cytochrome P450 proteins. POR disruption affects all partners with disastrous consequences and POR knock-out mice are embryonically lethal. A number of POR mutations and polymorphisms have been characterized from patients ...

hrp0084p2-457 | Growth | ESPE2015

Low Plasma Ghrelin Levels in Children with Severe Protein Energy Malnutrition

Harikrishnan V , Kumar Rakesh , Sachdeva Naresh , Dayal Devi

Background: Protein energy malnutrition (PEM) is a catabolic state with altered energy balance and anorexia. Ghrelin is a peptide hormone, produced by neuro-endocrine cells in the stomach, which stimulates appetite, increases food intake and growth hormone release. Although many trials have shown short term efficacy of ghrelin to increase appetite in anorexic and cachectic patients, data on the children with PEM is scarce.Objective and hypotheses: The st...

hrp0084p3-1235 | Turner | ESPE2015

Turner Syndrome in Iceland 1968–2012: Congenital Anomalies and Clinical Outcomes

Sigmarsdottir Arndis A , Johannsson Johann H , Sigurjonsdottir Helga A , Thorsson Arni V

Background: In 1968 a cytogenetics laboratory was established at the University Hospital, Reykjavik and has since then served as the only chromosomal laboratory for all hospitals and physicians in Iceland. Our current aim was to study the physical features, congenital anomalies and various clinical outcomes in Icelandic females, diagnosed with Turner syndrome (TS) for the period of 1968–2012.Method: Data was obtained from hospital records, from all ...

hrp0089p1-p026 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Duration of Breastfeeding and Bone Mineral Density in Childhood – A Prospective Study Among Preschool Children

Tint Mya Thway , Pang Wei Wei , Vasanwala Rashida Farhad , Padmapriya Natarajan , Ng Sharon , Soh Shu E , Chong Mary Fong-Fong , Shek Lynette Pei Chi , Gluckman Peter D , Chong Yap-Seng , Godfrey Keith M , Fortier Marielle V , Eriksson Johan G , Lee Yung Seng , Zhang Cuilin , Yap Fabian

Background: Bone growth and mineralization during childhood are now recognized as important for bone health in adulthood, leading to renewed interest in identifying modifiable factors that impact bone mineral density (BMD) in childhood. Emerging data suggest that duration of breastfeeding may affect BMD in later childhood and adult life. However, such data are sparse and inconsistent.Objectives: This study examined the relationship betwe...

hrp0086rfc10.2 | Perinatal Endocrinology | ESPE2016

Dysregulation of Placental Mirna in Maternal Obesity is Associated with Pre-and Post-Natal Growth

Bassols Judit , Carreras-Badosa Gemma , Bonmati Alexandra , Ortega Francisco-Jose , Mercader Josep-Maria , Prats-Puig Anna , deZegher Francis , Ibanez Lourdes , Fernandez-Real Jose-Manuel , Lopez-Bermejo Abel

Background: Human placenta exhibits a specific miRNA expression pattern. Some of these miRNAs are dysregulated in pregnancy disorders like preeclampsia and intrauterine growth restriction (IUGR), and are potential biomarkers for these pathologies. No studies have been performed in maternal obesity.Objective and hypotheses: (1) Define the placental miRNA profile in pregnant women with: a) pre-pregnancy (preOB) or gestational obesity (gestOB), b) gestation...

hrp0086p1-p898 | Thyroid P1 | ESPE2016

Do Different Initial Doses of L-T4 within the Range of 10-15 mcg/kg/day Influence Neurodevelopment during the First Two Years of Life in Children with Congenital Hypothyroidism?

Esposito Andrea , Bravaccio Carmela , Bruzzese Dario , Cassio Alessandra , Gastaldi Roberto , Mussa Alessandro , Peroni Elena , Polizzi Miriam , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...

hrp0086p2-p950 | Thyroid P2 | ESPE2016

The Evolution of Thyroid Function after Hashimoto’s Thyroiditis Presentation is Different in Initially Euthyroid Girls with or without Turner Syndrome

Wasniewska Malgorzata , Salerno Mariacarolina , Corrias Andrea , Mazzanti Laura , Matarazzo Patrizia , Corica Domenico , Aversa Tommaso , Messina Maria Francesca , De Luca Filippo , Valenzise Mariella

Background: Hashimoto’s thyroiditis (HT) is the commonest autoimmune disorder in Turner syndrome (TS). Although there are in the pediatric literature many studies on the relationships between TS and HT, only few of them have specifically investigated whether the association with TS might be able to significantly affect the evolution over time of thyroid function in children and adolescents with HT, by conditioning a different thyroid status prognosis.<p class="abstext...