خصوصیات دموگرافیک و یافته‌های بالینی در مبتلایان به هیپرپلازی آدرنال مادرزادی در شهر اصفهان

نوع مقاله : مقاله های پژوهشی

نویسندگان

1 دانشجوی پزشکی، کمیته‌ی تحقیقات دانشجویی، دانشکده‌ی پزشکی، دانشگاه علوم پزشکی اصفهان، اصفهان، ایران

2 استاد، گروه اطفال، دانشکده‌ی پزشکی، دانشگاه علوم پزشکی اصفهان، اصفهان، ایران

چکیده

مقدمه: هیپرپلازی آدرنال مادرزادی (Congenital adrenal hyperplasia یا CAH)، شایع‌ترین علت ابهام جنسی است که می‌تواند با ژنیتالیای مبهم، کاهش وزن و پوبارک زودرس بروز کند. بنابراین، هدف از انجام مطالعه‌ی حاضر، بررسی خصوصیات دموگرافیک و یافته‌های بالینی در مبتلایان به CAH بود.روش‌ها: در این پژوهش مقطعی، 161 بیمار مبتلا به CAH شرکت کردند. همه‌ی بیماران پرونده‌ی پیگیری داشتند و یافته‌های آنتروپومتریک معاینات بالینی و آزمایش‌ها در پرونده ثبت شده بود و طبق پرسش‌نامه از پرونده استخراج گردید.یافته‌ها: 142 بیمار دارای کمبود 21 هیدروکسیلاز (21-hydroxylase deficiency یا 21-OHD)، 10 مورد 3β-Hydroxysteroid dehydrogenase (3β-HSD)، 7 مورد دارای 11-OHD و 2 مورد Steroidogenic acute regulatory protein (StAR) بودند. توزیع جنسی بیماران به صورت 69 پسر و 92 دختر با میانگین سنی 61/5 ± 39/9 سال بود. شیوع اختلال ماکروپنیس 4/22 درصد، کلیتوریس بزرگ 5/33 درصد، ابهام جنسی 3/14 درصد، هیرسوتیسم 0/5 درصد، رویش زودرس موی صورت 6/5 درصد و رشد زودرس موی ناحیه‌ی پوبیک 8/11 درصد گزارش گردید. میانگین سن بلوغ در بیماران، 48/2 ± 89/9 سال بود.نتیجه‌گیری: با توجه به یافته‌های بالینی در کودکی که با ژنیتالیای مبهم، ماکروپنیس، کلیتوریس بزرگ، هیرسوتیسم، رویش زودرس موی صورت و رشد زودرس موی ناحیه‌ی پوبیک مراجعه می‌کند، باید اختلال CAH مد نظر قرار گیرد.

کلیدواژه‌ها


عنوان مقاله [English]

Demographic Characteristics and Clinical Findings in Patients with Congenital Adrenal Hyperplasia in Isfahan City, Iran

نویسندگان [English]

  • Ranasadat Saleh 1
  • Mahin Hashemipour 2
1 Student of Medicine, Student Research Committee, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
2 Professor, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
چکیده [English]

Background: Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia, which can be obscured by ambiguous genitalia, weight loss, and premature pubarche. Therefore, this study aimed to evaluate the demographic characteristics and clinical findings of patients with congenital adrenal hyperplasia.Methods: In this cross-sectional study, 161 patients with congenital adrenal hyperplasia participated. All patients were followed up, and anthropometric findings of clinical examinations and paraclinical findings were accurately recorded in the files, and extracted from the records.Findings: 142 cases of deficiency of 21-hydroxylase deficiency (21-OHD), 10 cases of 3β-hydroxysteroid dehydrogenase (3β-HSD), 7 cases of 11-hydroxylase deficiency (11-OHD), and 2 cases of steroidogenic acute regulatory protein (StAR) were studied. 69 patients were boys and 92 were girls, with an average age of 9.39 ± 5.61 years. The prevalence of macropenia was 22.4%, as well as clitoromegaly 33.5%, ambiguous genitalia 14.3%, hirsutism 5.0%, premature facial hair loss 5.6%, and premature puberty 11.8%; and mean age of puberty was 8.89 ± 2.48 years.Conclusion: Based on the clinical findings, in children with ambiguous genitalia, macropenia, clitoromegaly, hirsutism, premature facial hair growth, and premature puberty, we should consider congenital adrenal hyperplasia.

کلیدواژه‌ها [English]

  • Congenital adrenal hyperplasia
  • Demographics
  • Clinical study
  • Laboratories
  • Ambiguous genitalia
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