hrp0089p3-p350 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

5-Alpha Reductase Type 2 Deficiency among Iranian Patients with Ambiguous Genitalia

Rabbani Bahareh , Mahdieh Nejat , Rabbani Ali , Dalili Setila

5-alpha reductase converts testosterone to dihydrotestostrone. SRD5A2 mutation leading to deficiency of 5-alpha reductase causes a disorder of 46,XY sex development named 5-alpha reductase type 2 deficiency. Due to deficit of this enzyme, female external genitalia is common sign of disease in 46,XY individuals. SRD5A2 mutations have been reported in different ethnicities. Here, mutations of this gene are reported in Iranian subjects. Affected individuals were subjected to stud...

hrp0089p3-p352 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

New Mutation in 5-Alpha-Redoctase: A Five-Month-Old Infant with a Karyotype of 46 XY

Dalili Setila , Mahdie Nejat

5-alpha-reductase is an enzyme for converting testosterone to dehydrotestestrone (DHT). A five-month-old infant with a karyotype of 46 XY and female genitalia referred to endocrinology clinic. Regarding the presence of Down syndrome in the family medical history, her mother had amniocentesis during pregnancy. The amniocentesis mentioned xy karyotype. However, repeated ultrasounds mentioned female genitalia. After birth, at 5 months, a first ultrasound mentioned no testis but s...

hrp0086p1-p225 | Diabetes P1 | ESPE2016

Association Between Vascular Endothelial Markers and Carotid Intima-media Thickness in Children and Adolescents with Type 1 Diabetes Mellitus

Rostampour Noushin , Hashemi-Dehkordi Elham , Fekri Kiavash , Obodiat Mahdieh

Background: Type 1 diabetes mellitus (T1DM) is an important risk factor for cardiovascular events. Endothelial dysfunction and carotid intima-media thickness (CIMT) lead to increased cardiovascular complications. Adhesion molecules such as vascular cell adhesion molecule-1 (VCAM-1) and intercellular adhesion molecule-1 (ICAM-1) are markers of early atherosclerosis and play a significant role in developing atherosclerosis. The general aim of the present study was to investigate...

hrp0095p1-80 | Fat, Metabolism and Obesity | ESPE2022

Obesity and overweight increased in pre-school Swedish children during the COVID-19 pandemic

Holmgren Anton , Nejat Sahar , Edvinsson Sollander Sofia , Durbeej Natalie , Fäldt Anna

Background: The COVID-19 pandemic has had wide effects on child health globally. Increased prevalence of childhood obesity has been observed during the pandemic. The absence of a formal societal lockdown during the pandemic, made Sweden stand out compared to other countries. Several studies have shown increases in obesity in children during the COVID-19 pandemic. These studies mainly focused on school age children and adolescents in countries that underwent pe...