Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height

被引：18

作者：

Savas-Erdeve, Senay ^{[1
]}

Cetinkaya, Semra ^{[1
]}

Abali, Zehra Yavas ^{[2
]}

Poyrazoglu, Sukran ^{[2
]}

Bas, Firdevs ^{[2
]}

Berberoglu, Merih ^{[3
]}

Siklar, Zeynep ^{[3
]}

Korkmaz, Ozlem ^{[4
]}

Bulus, Derya ^{[5
]}

Akbas, Emine Demet ^{[6
]}

Guran, Tulay ^{[7
]}

Bober, Ece ^{[8
]}

Akin, Onur ^{[9
]}

Yilmaz, Gulay Can ^{[10
]}

Aycan, Zehra ^{[1
]}

机构：

[1] Childrens Hlth & Dis Training & Res Hosp, Dr Sami Ulus Obstet & Gynecol, Dept Paediat Endocrinol, Plevne Mahallesi,Babur Caddesi, Ankara, Turkey

[2] Istanbul Univ, Sch Med, Dept Paediat Endocrinol, Istanbul, Turkey

[3] Ankara Univ, Sch Med, Dept Paediat Endocrinoloy, Ankara, Turkey

[4] Ege Univ, Sch Med, Dept Paediat Endocrinol, Izmir, Turkey

[5] Kecioren Training & Res Hosp, Dept Paediat Endocrinol, Ankara, Turkey

[6] Gazi Univ, Sch Med, Dept Paediat Endocrinol, Ankara, Turkey

[7] Marmara Univ, Sch Med, Istanbul, Turkey

[8] Dokuz Eylul Med Sch, Dept Paediat Endocrinol, Izmir, Turkey

[9] Gulhane Mil Med Acad, Dept Paediat Endocrinol, Ankara, Turkey

[10] 19 Mayis Med Sch, Dept Paediat Endocrinol, Samsun, Turkey

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2017年 / 30卷 / 07期

关键词：

final height; 21 hydroxylase deficiency; nonclassical congenital adrenal hyperplasia; CONGENITAL ADRENAL-HYPERPLASIA; STEROID; 21-HYDROXYLASE; PUBERTAL CHANGES; ADULT HEIGHT; GENOTYPE; CORTISOL; SPECTRUM; CHILDREN; PATTERN; COHORT;

D O I：

10.1515/jpem-2017-0088

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. Methods: This multicenter, nationwide web-based study collected data. Results: The mean age was 9.79 +/- 4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 mu g/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. Conclusions: The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.

引用

页码：759 / 766

页数：8

共 31 条

[1] CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency [J].