The spectrum of clinical, hormonal findings in children with congenital adrenal hyperplasia in Isfahan province; a 20-year review

Mahin Hashemipour; Rana Saleh

doi:10.1515/hmbci-2022-0116

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The spectrum of clinical, hormonal findings in children with congenital adrenal hyperplasia in Isfahan province; a 20-year review

Mahin Hashemipour und Rana Saleh

Veröffentlicht/Copyright: 14. August 2024

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Aus der Zeitschrift Hormone Molecular Biology and Clinical Investigation Band 45 Heft 3

Abstract

Objectives

Congenital adrenal hyperplasia is an autosomal recessive disorder caused by complete or partial defects in one of the several steroidogenic enzymes involved in synthesizing of cortisol from cholesterol in the adrenal gland. Prompt and proper treatment of the disease would reduce symptoms and the level of androgens in patients. The present study aimed to evaluate the demographic characteristics and clinical findings of these patients.

Methods

This retrospective investigation was conducted in 146 patients with congenital adrenal hyperplasia participated. Their clinical and paraclinical findings were accurately recorded in the file and extracted from the records.

Results

Among all 146 patients, 119(81.5 %) was 21-OH Deficiency type;11-OH Deficiency type was 13(8.9 %), 10(6.8 %) was 3β-HSD type, StAR was 2(1.4 %) and 17 alpha(α)-hydroxylase Deficiency was 2(1.4 %). The mean age of disease onset in these patients was 2.45 ± 1.16 years. Macropenis was the most frequent clinical finding in 39 cases of 64 boys (60.9 %), and Clitoromgaly was the most clinical presentation in 40 cases of 82 girls (48.7 %). The levels of testosterone, dehydroepiandrosterone sulfate, and 17-OHP significantly decreased in the last visit compared to the initial diagnosis.

Conclusions

Based on the clinical findings in every infant or child with ambiguous genitalia, macropenis, clitoromegaly, hirsutism, and premature pubarche, we should consider congenital adrenal hyperplasia. Prompt and proper treatment and disease control would reduce symptoms and the level of androgens in patients.

Keywords: congenital adrenal hyperplasia; clinical presentation; hormonal findings; children; Iran

Corresponding author: Rana Saleh, MD, Isfahan Endocrine & Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; and Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran, E-mail: Ranasaleh.medical.university@gmail.com

Acknowledgments

The authors appreciate all staff members of the pediatric endocrine ward, archive, and Laboratory of Imam Hossein Children’s hospital, Isfahan, Iran for their aid in this project.

Research ethics: The study protocol was approved by Research committee of Isfahan University of Medical Sciences and the Ethics committee has confirmed it (IR.MUI.MED.REC.1394.3.1056).
Informed consent: All patients enrolled to study after the presentation of study goals, ensuring respect to confidentiality and privacy and signing of informed consent by parents and their satisfaction about participation in the study, researchers had ensured that all participants and/or their parents had consent about the publishing of final results and data as a research study in international scientific journals.
Author contributions: M.H. and R.S. conceived and designed research. M.H. conducted experiments. R.A. analyzed data. R.A. wrote the manuscript. All authors read and approved the manuscript and all data were generated in-house and that no paper mill was used.
Competing interests: The authors state that there is no potential conflict of interest (financial or non-financial) and competing interest in this study.
Research funding: This work was supported by the Isfahan Endocrine & Metabolism& Research Center, Isfahan University of medical sciences, Isfahan, Iran.
Data availability: The data that support the findings of this study are available on request from the corresponding author.

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Received: 2022-12-31

Accepted: 2024-07-09

Published Online: 2024-08-14

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Schlagwörter für diesen Artikel

congenital adrenal hyperplasia; clinical presentation; hormonal findings; children; Iran