患有先天性肾上腺皮质增生症的儿童和青少年的性腺变化。

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-11-04 DOI:10.1515/jpem-2024-0417
Rana Mahmoud, Marwa Elsayed Abdelrahman, Hasnaa Hassan Mohamed, Heba Elsedfy
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引用次数: 0

摘要

研究目的睾丸肾上腺休息瘤(TART)是先天性肾上腺增生症(CAH)男性患者不育的常见原因。卵巢肾上腺休止期肿瘤(OARTs)和多囊卵巢(PCO)会损害先天性肾上腺皮质增生症(CAH)女性患者的卵巢功能。我们旨在检测 CAH 儿童和青少年的性腺变化:研究对象为 50 名 21- 羟化酶缺乏症(21-OHD)的 CAH 患者(30 名女性和 20 名男性),平均年龄为(10.35 ± 2.36)岁。男性和女性分别进行了睾丸超声波检查和盆腔磁共振成像(MRI)检查。糖皮质激素剂量和生化数据均来自患者的医疗记录:结果:10/20 名男性患者(50%)发现了 TARTs。TARTs的存在与体重指数(BMI)标准偏差评分(SDS)和骨龄之间存在明显关系(P=0.017和0.023;分别为0.017和0.023)。TARTs的存在、实验室参数或接受的治疗之间没有明显关系(P>0.05)。在接受基因分析的患者中,48%有I2剪接(c.290-13A/C>G),其次是P30L(c.89C>T)(40.7%)。P30L(c.89C>T)是TARTs患者中最常见的等位基因(42.9%)。TARTs的存在与基因型、等位基因或基因型组之间没有明显关系(P>0.05)。只有一名女性患者有双侧多囊卵巢的放射学证据,没有人有OARTs:结论:在我们的研究中,TART 的发病率很高(50%)。结论:在我们的研究中,TARTs 的发生率很高(50%)。对 CAH 男性患者进行 TARTs 筛查至关重要;但是,除非存在卵巢功能障碍,否则不建议对 CAH 女性患者进行常规卵巢成像检查。
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Gonadal changes in children and adolescents with congenital adrenal hyperplasia.

Objectives: Testicular adrenal rest tumours (TARTs) are a common cause of infertility in males with congenital adrenal hyperplasia (CAH). Ovarian adrenal rest tumours (OARTs) and polycystic ovaries (PCO) can impair ovarian function in female patients with CAH. We aim to detect gonadal changes in children and adolescents with CAH.

Methods: This study was conducted on 50 CAH patients (30 females and 20 males) with 21-hydroxylase deficiency (21-OHD), with a mean age of 10.35 ± 2.36 years. Testicular ultrasonography and pelvic magnetic resonance imaging (MRI) were done in males and females respectively. Glucocorticoid doses and biochemical data were obtained from the patients' medical records.

Results: TARTs were detected in 10/20 male patients (50 %). There was a significant relation between presence of TARTs, body mass index (BMI) standard deviation score (SDS), and bone age (p=0.017 and 0.023; respectively). There was no significant relation between presence of TARTs, laboratory parameters, or treatment received (p>0.05). Of those subjected to genetic analysis, 48 % had I2 splice (c.290-13A/C>G) followed by P30L (c.89C>T) (40.7 %). P30L (c.89C>T) was the most common allele among the patients with TARTs (42.9 %). There was no significant relation between presence of TARTs, the genotype, alleles, or the genotype groups (p>0.05). Only one female patient had radiological evidence of bilateral polycystic ovaries and none had OARTs.

Conclusions: The prevalence of TARTs in our study was high (50 %). Screening for TARTs in males with CAH is crucial; however, routine ovarian imaging in CAH females is not indicated unless ovarian dysfunction is present.

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来源期刊
CiteScore
2.70
自引率
7.10%
发文量
176
审稿时长
3-6 weeks
期刊介绍: The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers),. JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.
期刊最新文献
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