Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
-
Şenay Savaş-Erdeve
,
Semra Çetinkaya
Abstract
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 μg/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.
Acknowledgments
For technical support, we would like to express our thanks to the Turkish Society of Endocrinology and Diabetes and to the following physicians for providing patient data: Enver Şimşek, Birgül Kırel, Atilla Çayır, Doğuş Vurallı, Ruken Yıldırım, Beray Selver, Ayça Törel Ergür, Cemil Koçyiğit, Meltem Tayfun, Mesut Parlak, Muammer Büyükinan, Belma Haliloğlu, Elif Özsu, Saygın Abalı, Sebahat Yılmaz Ağladıoğlu and Semih Bolu.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- High prevalence of organ specific autoantibodies in Indian type 1 diabetic patients
- Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
- Excessive weight gain in exclusively breast-fed infants
- Comparison of Tanner staging of HIV-infected and uninfected girls at the University of Nigeria Teaching Hospital, Ituku/Ozalla, Enugu, Nigeria
- Joint association of screen time and physical activity with anthropometric measures in Iranian children and adolescents: the weight disorders survey of the CASPIAN-IV study
- Assessment of insulin like growth factor-1 and IGF binding protein-3 in healthy Indian girls from Delhi and their correlation with age, pubertal status, obesity and thyroid hormonal status
- Impact of discontinuation of growth hormone treatment on lipids and weight status in adolescents
- Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
- A combined approach to generate laboratory reference intervals using unbalanced longitudinal data
- Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
- Case Reports
- Pediatric toxic polycystic thyroid
- In utero virilization secondary to a maternal Krukenberg tumor: case report and review of literature
- Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction
- Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
Artikel in diesem Heft
- Frontmatter
- Original Articles
- High prevalence of organ specific autoantibodies in Indian type 1 diabetic patients
- Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
- Excessive weight gain in exclusively breast-fed infants
- Comparison of Tanner staging of HIV-infected and uninfected girls at the University of Nigeria Teaching Hospital, Ituku/Ozalla, Enugu, Nigeria
- Joint association of screen time and physical activity with anthropometric measures in Iranian children and adolescents: the weight disorders survey of the CASPIAN-IV study
- Assessment of insulin like growth factor-1 and IGF binding protein-3 in healthy Indian girls from Delhi and their correlation with age, pubertal status, obesity and thyroid hormonal status
- Impact of discontinuation of growth hormone treatment on lipids and weight status in adolescents
- Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
- A combined approach to generate laboratory reference intervals using unbalanced longitudinal data
- Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
- Case Reports
- Pediatric toxic polycystic thyroid
- In utero virilization secondary to a maternal Krukenberg tumor: case report and review of literature
- Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction
- Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
