Razi Journal of Medical Sciences

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Ambiguous genitalia disorder is an uncommon situation that happens between 1 per every 4,500 live births and falls into disorders of sexual development. In general, the reproductive system is made up of Wolff and Müllerian tubes. In the male fetus, the SRY gene promotes testicular development. The testes then produce androgens, testosterone, and dihydrotestosterone, leading to the development of the male reproductive system and, at the same time, preventing the growth of the female reproductive system by preventing the growth of the molar tubes. The development of the female reproductive system also occurs under the control of two genes, DAX1 and WNT4, which prevent the development of testicles in girls. Disorder of sex development (DSD) is defined as a congenital mismatch between sex phenotype, gonadal, and sex chromosome, which mainly present with atypical genital appearance or ambiguous genitalia. Enlarged clitoris, untouched testicles, bifurcated scrotum are some of the obvious symptoms of sexual ambiguity. This disorder is a tragic and very sad event and a serious illness that imposes deep emotional and psychological worries on the family. Therefore, it is necessary to adopt immediate and rational management with clinical, hormonal, genetic, molecular and radiographic research to determine the cause and treatment approach. True sexual ambiguity refers to a condition in which a person has both ovarian and testicular tissue, in which the external genitalia show all the intermediate degrees of male to female. During puberty, the signs of masculinity and femininity occur in various forms, and about two-thirds of people have the XX 46 karyotype, one-tenth the XY 46 karyotype, and the rest have chromosomal mosaicism. Psuedosexual ambiguity is based on two types of false feminine and masculine false. A person with a female pseudosexual ambiguity shows some masculine characteristics and falls into different categories, each of which appears due to a lack of a specific enzyme with its own clinical symptoms. The most common of these is congenital adrenal hyperplasia, which occurs due to a deficiency of the enzyme 21-hydroxylase and is the most common cause of sexual ambiguity in infants. A male pseudosexual ambiguity is a person in whom the sinuses are exclusively testicular but the external genitalia appear as female or male that is not completely differentiated. In this article, a late term neonate with ambiguous genitalia, born of a 19-year-old mother, was reported. On initial examination by a pediatrician, micro penis and empty scrotum like labia was observed. The pediatrician emphasized the importance of determining the sex of the baby at the right time, trying to educate the baby's family to perform cytogenetic tests to prepare a karyotype first and then check the hormonal profile and finally determine the appropriate sex for them, through counseling It was done with the relevant specialists. At present, patients with ambiguous genitalia due to the management of sexual development disorders (DSD) as a result of classification of disorders and the availability of adequate cytogenetic facilities have a better chance than before for rapid diagnosis, appropriate treatment and reconstruction of the genital tract through surgery. In addition, early detection of the disease is the best course of action, which can be done by genetic counseling to examine the exact history of the disorder in relatives, the relationship between parents and other developmental disorders in other children in the family.
 
 

Keywords: Ambiguous genitalia, DSD, scrotum, Micro penis

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