性早熟是Mayer-Rokitansky-Kuster-Hauser综合征的一种不寻常的表现:一例报告

IF 1.3 Q2 MEDICINE, GENERAL & INTERNAL

Saudi Journal of Medicine & Medical Sciences Pub Date : 2023-06-16 DOI:10.36348/sjm.2023.v08i06.007

Kaoutar Rifai, Lamya Echchad, Nawal Moussaid, H. Iraqi, M. Gharbi

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引用次数: 0

摘要

MRKH综合征是一种罕见的先天性疾病，影响女性生殖系统，导致子宫阴道发育不全。典型表现为青春期女性原发性闭经，第二性征发育正常，核型为46,xx。在这篇文章中，我们报告了一个不寻常的病例MRKHS 7岁的女孩谁咨询过早分娩和出版。她有一个正常的核型(46,XX)，正常的外部遗传。促性腺激素释放激素(GnRH)刺激试验显示LH峰值为1.77 UI/l, FSH峰值为5.44 UI/l。影像学显示10岁时骨龄提前。盆腔MRI显示子宫发育不全伴部分阴道发育不全。

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Precocious Puberty as an Unusual Presentation in Mayer-Rokitansky-Kuster-Hauser Syndrome: A Case Report

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system, resulting in uterovaginal agenesis. It’s typically presented as primary amenorrhoea in adolescence in female with normal development of secondary sexual characteristics and 46, XX karyotype. In this article, we report an unusual case of MRKHS of a girl of 7 years old who consulted for premature thelarche & pubarche. She has a normal karyotype (46, XX) with normal external genetalia. Gonadotropin releasing hormone (GnRH) stimulation test revealed a peak LH level of 1.77 UI/l and peak FSH level of 5.44 UI/l. Imaging disclosed advanced bone age at 10 years. Pelvic MRI showed uterine hypoplasia with partial vaginal agenesis.

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来源期刊

Saudi Journal of Medicine & Medical Sciences MEDICINE, GENERAL & INTERNAL-

CiteScore

1.40

自引率

0.00%

发文量

审稿时长

15 weeks

期刊介绍： Saudi Journal of Medicine & Medical Sciences (SJMMS) is the official scientific journal of Imam Abdulrahman Bin Faisal University. It is an international peer-reviewed, general medical journal. The scope of the Journal is to publish research that will be of interest to health specialties both in academic and clinical practice. The Journal aims at disseminating high-powered research results with the objective of turning research into knowledge. It seeks to promote scholarly publishing in medicine and medical sciences. The Journal is published in print and online. The target readers of the Journal include all medical and health professionals in the health cluster such as in medicine, dentistry, nursing, applied medical sciences, clinical pharmacology, public health, etc.