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 ...

hrp0094p2-317 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Noonan syndrome patients with short stature at a single pediatric endocrinology centre

Deyanova Y. , Iotova V. , Tsochev K. , Stoyanova M. , Stoicheva R. , Mladenov V. , Bazdarska Y. , Galcheva S. , Zenker M. ,

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

hrp0089p3-p214 | GH & IGFs P3 | ESPE2018

Two Siblings with Short Stature

V Sri Nagesh , Dauber Andrew , Kanithi Ravishankar , Dutta Deep , G Ram Kumar

2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.</sma...

hrp0089p1-p214 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

In Silico and In vitro Studies of Human SRD5A2 Variants in Search for Activating Variants Explaining Androgen Excess Reveal Additional Loss of Function Variants

Katharopoulos Efstathios , Sauter Kay-Sara , Pandey Amit V , Fluck Christa E

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the conversion of T to DHT in the classic androgen production pathway, or from 17-hydroxyprogesterone to 17OH-dihydroprogesterone, and androstenedione to androstanedione in alternate ...

hrp0086rfc4.2 | Pathophysiology of Obesity | ESPE2016

Adipocytokines Delay Pubertal Maturation of Human Sertoli Cells

Wagner Isabel V. , Yango Pamela , Svechnikov Konstantin , Tran Nan D. , Soder Olle

Background: Obesity and metabolic syndrome related co-morbidities are increasingly recognized in children. Reproduction is an important target of obesity complications, including adverse effects on spermatogenesis and steroidogenesis in males. Adipocytokines are key players in various complications of obesity.Objective and hypotheses: The aim was to study the potential effects of adipocytokines on Sertoli cell function and possibly link the findings to t...

hrp0086rfc4.6 | Pathophysiology of Obesity | ESPE2016

Adipose Tissue – A Source of Hyperandrogenism in Obese Females?

Wagner Isabel V. , Sahlin Lena , Savchuk Iuliia , Svechnikov Konstantin , Soder Olle

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism. However, the source of androgens is not entirely clear.Objectives and hypotheses: Our objective was to find out if adipose tissue (AT) is a site of steroid production during childhood and adolescence, and if this source could add to hyperandrogenism in obese females.Methods: Parametrial and inguinal adipose tissue was collected and...

hrp0082p1-d3-51 | Bone (1) | ESPE2014

Bone Geometry, Volumetric Density, Microarchitecture and Estimated Bone Strength Assessed by HR-pQCT in Adult Patients with Hypophosphatemic Rickets

Shanbhogue Vikram v. , Hansen Stinus , Folkestad Lars , Brixen Kim , Beck-Nielsen Signe Sparre

Background: Hypophosphatemic rickets (HR) are rare, inheritable disorders caused by excessive renal phosphate wasting. Despite a generalized mineralization defect, patients with HR are reported with a lower risk of fracture.Objective and hypotheses: The aim of this study was to evaluate the effect of bone -geometry, -microarchitecture and volumetric BMD (vBMD) on the estimated bone strength in adult patients with HR using high-resolution peripheral quant...