hrp0082p3-d3-692 | Bone (2) | ESPE2014

Vitamin D Deficiency in Children

Dobrescu Andreea , Chirita-Emandi Adela , Papa Maria , Puiu Maria

Background: Vitamin D deficiency has a high prevalence in children. It is produced by the skin from exposure to sunlight but its synthesis is influenced by many external and internal factors.Objective and hypotheses: The study aims to evaluate vitamin D in children with different pathology and highlights the influencing factors of it.Method: We evaluate 25-hydroxyvitamin D levels in 84 patients, sex ratio 1.15:1, aged between 3 mon...

hrp0086rfc13.8 | Management of Obesity | ESPE2016

Measuring Subcutaneous Adipose Tissue Using Ultrasound in Children

Chirita-Emandi Adela , Puiu Maria

Background: The method for assessing adipose tissue thickness using ultrasound has been used extensively in sport medicine. However, the reliability of this method in children was not evaluated. We aim to determine the inter-observer reliability in measuring uncompressed subcutaneous adipose tissue thickness (USAT) using ultrasound, in children.Methods: About 40 healthy children (20 male, 20 female), median age 11.8 years (5.3 to 18.1) were evaluated. Me...

hrp0084p3-659 | Bone | ESPE2015

Vitamin D Status in Romanian Children 0–18 Years – Should we be More Careful Regarding Supplementation?

Chirita-Emandi Adela , Puiu Maria

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

hrp0089p3-p408 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Genetic Testing by SNP Array Analysis in A Group of Romanian Patients with Disorders of Sexual Development

Miclea Diana , Alkhzouz Camelia , Bucerzan Simona , Cret Victoria , Puiu Maria , Grigorescu-Sido Paula

Context: Disorders of sexual development (DSD) are those medical conditions with abnormalities of sex chromosomes, gonads, internal ducts or external genitalia. Sex determination and differentiation is a process under genetic control, only partially explained. Genetic testing and identification of a cause in DSD is essential for a precise diagnosis and correct management and also has an important psychosocial motivation.Aim: To make a genomic analyse, us...

hrp0097p2-43 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Persistent Müllerian duct syndrome and the identification of a yet unreported homozygous mutation in AMHR2 gene

Cima Luminita-Nicoleta , Oprescu Raluca , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Dumitrache Sabina , Grosu Iustina , Draghici Isabela , Chirita-Emandi Adela , Puiu Maria , Gabriela Barbu Carmen , Viorica Popescu Mihaela , Fica Simona

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...