Molecular and Cytogenetic Evaluation of Gender in Patients Born with Ambiguous Genitalia from Different Regions of the Valley of Kashmir, North India

Arshad, A P; ith,; Akbar, Shahnawaz; Shehjar, Faheem; Malla, Tahir M.; Zargar, Maharukh H; Shah, Zafar A.; Lateef, Adil; Qasim, Iqbal; Dar, Fayaz Ahmad; Azad, Niyaz A.; Baba, Shahid M.

doi:10.4172/2157-7412.1000261

Cited by 2 publications

(4 citation statements)

References 22 publications

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“…Studies conducted in patients from the valley of Kashmir have reported 58% of genetic females and 42% of genetic males. 16 Many of the previous authors have reported an incidence of more number of genetic females in their study group. 5,12,16 Several authors have also reported the incidence of the mosaic karyotype.…”

Section: Discussionmentioning

confidence: 84%

“…16 Many of the previous authors have reported an incidence of more number of genetic females in their study group. 5,12,16 Several authors have also reported the incidence of the mosaic karyotype. 2,21,22 However, our study failed to detect mosaicism.…”

Section: Discussionmentioning

confidence: 84%

“…PCR analysis of the SRY gene provides information about the presence of a Y chromosome within one day although a full karyotype is required for confirmation and exclusion of mosaicism. 6,16 This study has detected genetic females with normal internal genitalia reared as males who require reassignment of sex. Reassignment of sex in patients with ambiguous genitalia is a very sensitive matter.…”

Section: Discussionmentioning

confidence: 99%

“…15 Children born with ambiguous genitalia should be evaluated to rule out lethal conditions like CAH, and the gender of the child must be assigned as rapidly as possible to avoid later complications. 13,16 Ambiguous genitalia can be due to fetal endocrinological abnormalities or defective gonadal development. 1 Such anomalies vary from mild hypospadias in males to the enlarged clitoris in females.…”

Section: Introductionmentioning

confidence: 99%

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Genital ambiguity: a cytogenetic evaluation of gender

et al. 2021

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Background: Genital ambiguity is a complex genetic disorder of sexual differentiation into male or female. The purpose of the present study is to correlate the sex of rearing with the genetic sex and to find out the prevalence of chromosomal anomalies in patients with ambiguous genitalia. The findings can help in proper diagnosis, genetic counselling, and the reassignment of sex, if necessary. Methods: In this cross-sectional study, 22 patients from north Kerala, ranging in age from 17 days to 17 years, were included. All cases were subjected to the following: a detailed history, physical examination, evaluation of clinical data, and cytogenetic analysis. Based on the standard protocol, peripheral blood lymphocyte culture was done. Chromosomal analysis was carried out with the help of an automated karyotyping system after G-banding of chromosomes.Results: Out of the 22 patients with ambiguous genitalia, 12 patients were genetic females with karyotype 46, XX, and nine patients were genetic males with 46, XY karyotype. One was a rare variant of Klinefelter syndrome with karyotype 49, XXXXY. The most common diagnosis was congenital adrenal hyperplasia, followed by partial androgen insensitivity syndrome. Discrepancies between genetic sex and sex of rearing were noted in 27% of the cases.Conclusions: This study unfolds the variable etiology of ambiguous genitalia and emphasizes the importance of karyotyping in diagnosis, proper assignment of the sex, and appropriate management of patients with genital ambiguity.

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