Volume 1, Issue 2 (2017)                   SJRM 2017, 1(2): 79-83 | Back to browse issues page

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Abdi A, Zarbati N, Asami M, Bagherizadeh I, Hadipour F, Hadipour Z et al . Cytogenetic Study in Patients with Ambiguous Genitalia. SJRM. 2017; 1 (2) :79-83
URL: http://saremjrm.com/article-1-40-en.html
1- “Sarem Cell Research Center (SCRC)” and “Medical Genetics Department”, Sarem Women’s Hospital, Tehran, Iran
2- “Sarem Fertility & Infertility Research Center (SAFIR)”, “Sarem Cell Research Center (SCRC)” and “Medical Genetics Department”, Sarem Women’s Hospital, Tehran, Iran
Abstract:   (4494 Views)

Intrduction: Ambiguous genitalia is a tragic event, and causes a serious emotional burden to the family. In some cases with this disorder it may cause an urgent medical problem. Precisediagnosis is mandatory for efficient intervention to help the affected patient. Chromosome analysis is the first step in evaluation of the patients with ambiguous genitalia. A chromosomal study is conducted to determine the sex of patients with sexual ambiguity using standard methods. In this method, peripheral blood lymphocyte cells were cultured in a complete RPMI medium, and a high-resolution GTG banding technique was used for studying, and at least 20 chromosomal amplitudes were studied.
Patients Information: Two patients were 46XY and two others had 46XX karyotype. Patients with 46XX karyotype had Congenital Adrenal Hyperplasia (CAH). The ovarian and uterine tissues were normal in them, but they had a ambiguous external male genitalia. In the study of hormones of one of these patients, the amount of 17-hydroxyprogesterone and cortisol was normal, and high levels of aldosterone and potassium were reported. Patients with 46xy karyotype have Complete Androgen Insensitivity Syndrome (CAIS) and have a female female reproductive system. There are no uterine tubes in this group of patients and the testicles are in the abdomen.
Conclusion: Karyotype performance is essential for patients with ambiguous genitalia, in order to investigate the relationship between phenotype and genotype and thus the correct management of patients.

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Article Type: Series Report | Subject: Sterility
Received: 2015/12/22 | Accepted: 2016/05/18 | Published: 2017/06/16

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