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Endocrine Abstracts

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19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

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20-23 May 2017, Lisbon, Portugal Further information

Eposter Presentations: Adrenal and Neuroendocrine Tumours

Paediatric endocrinology

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Neuroendocrinology
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Pituitary - Clinical

ea0049ep205 | Paediatric endocrinology | ECE2017

An analysis of R356W and Q318X mutations and 8 bp deletion in 21-hydroxylase gene CYP21A2 in causing pseudo-precocious puberty in patients with congenital adrenal hyperplasia in Pakistani children

Parveen Nadiaj , Minallah Samar , Ismail Muhammad , Mansoor Qaiser , Akram Maleeha , Iqbal Zubaria , Jahan Sarwat , Afshan Kiran , Shahid Gulbin , Tahir Faheem , Naseem Afzaal Ahmed , Qayyum Mazhar , Rizvi Syed Shakeel Raza

The first signs of puberty are visible around the age of 8 years in girls and 9 years in boys. If signs of puberty appear before the designated ages in girls and boys, puberty is viewed as precocious. In peripheral precocious puberty, androgens concentrations increase due to testicular tumours or congenital adrenal hyperplasia (CAH). Two mutations, R356W and Q318X, and one 8 bp deletion in CYP21A2 gene, causing CAH type of precocious puberty were examined. Blood samples were o...
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ea0049ep206 | Paediatric endocrinology | ECE2017

Congenital adrenal hyperplasia: impact of therapy on growth and sexual maturation – a 5-year retrospective study of a Tertiary Pediatric Endocrinology Center

Procopiuc Camelia , Vintila Madalina , Gherlan Iuliana , Cirla Amel , Brehar Andreea , Caragheorgheopol Andra , Popa Suzana Vladoiu Oana , Dumitrescu Cristina

Objective: To evaluate the comparative effects of different glucocorticoid treatments on growth and sexual maturation in patients with congenital adrenal hyperplasia.Patients and methods: We conducted a retrospective observational cohort study in 78 patients (60 girls, 18 boys) diagnosed with congenital adrenal hyperplasia (CAH), followed-up for a period of 5 years. The majority had 21-hydroxylase deficiency (75 patients), 2 had 11-β hydroxylase def...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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