Cytogenetic and molecular study in intersex

Ella, Soheir S. Abou El; Tawfik, Maha A; El-Lahony, Dalia M; Anees, Nahla M.

doi:10.1016/j.ejmhg.2012.06.003

Cited by 3 publications

(6 citation statements)

References 15 publications

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“…Karyotyping of the 30 patients revealed a normal female karyotype 46,XX for 3 cases and a normal male karyotype 46,XY for 26 cases and one karyotype with anomalies in the sex chromosomes 47,XYY. This is in contradiction with the finding of Abou El Ella et al 24 and Anhalt et al 25 , who reported that the most common presentation of DSD was females (77% and 70% of cases, respectively). Karyotyping is essential for provisional diagnosis and classification of the DSD cases 26 .…”

Section: Discussioncontrasting

confidence: 83%

SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis

Kherouatou-Chaoui¹,

Chellat-Rezgoune²,

Rezgoune³

et al. 2021

Afr H. Sci.

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Background: In humans, sex determination and differentiation is genetically controlled. Disorders of sex development (DSD) result in anomalies of the development of the external and internal genitalia. Variants in transcription factors such as SRY, NR5A1 and SOX9, can cause changes in gonadal development often associated with ambiguity of the external genitalia. Objectives: This study has been conducted to determine the frequency, types and associated genetic alterations in patients with DSD in the Algerian population. Methods: Thirty patients were included. Based on their clinical presentation, thirteen patients presented with ambiguous external genitalia, thirteen patients presented with hypospadias and four patients presented with bilateral undescended tes- tes. Karyotype analysis was performed on peripheral blood lymphocytes using standard R-banding. DNA was isolated from blood leukocytes for PCR reaction and mutational analysis of SRY and NR5A1 was done by direct sequencing. Results: Most patients with ambiguous genitalia had a 46,XY karyotype. One patient had a deletion of SRY, otherwise no point mutations in SRY or NR5A1 genes were identified. However, a single NR5A1 polymorphism (p.Gly146Ala) in patient with 46,XX DSD has been detected. Conclusions: The absence of mutations in these genes suggests that there are others genes playing an important role in sex development and differentiation. Keywords: DSD; consanguinity; karyotyping; SRY; NR5A1; sequencing.

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Section: Discussioncontrasting

confidence: 83%

SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis

Kherouatou-Chaoui¹,

Chellat-Rezgoune²,

Rezgoune³

et al. 2021

Afr H. Sci.

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“…20 Cases of siblings affected with CAH and presented with hirsutism are already reported in the literature. 12 46, XX karyotype was more in number in the present study (12 cases, 54.5%). Studies conducted in patients from the valley of Kashmir have reported 58% of genetic females and 42% of genetic males.…”

Section: Discussionsupporting

confidence: 41%

“…As reported previously, the family history was relevant in our study in the case of two sisters affected by CAH. 12 A child previously affected in the family should raise the possibility of CAH, an autosomal recessive condition that causes excess adrenal androgen, which leads to genital ambiguity. 20 Cases of siblings affected with CAH and presented with hirsutism are already reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

“…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: 99%

“…11 The incidence of genital ambiguity that results in the child's sex being uncertain is one per 4500 children. 1,2,12,13 Treating a child with ambiguous genitalia is one of the most challenging diagnostic and therapeutic problems. The nomenclature 'intersex,' 'hermaphrodite' and 'pseudohermaphrodite' are unhelpful and perceived to be pejorative by some affected families.…”

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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Pattern of Pubertal Changes in Congenital Adrenal Hyperplasia Patients, with Idiopathic Central Precocious Puberty; Case Report

Nf¹

2016

J Endocrinol Metab Disord

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Cytogenetic and molecular study in intersex

Cited by 3 publications

References 15 publications

SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis

SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis

Genital ambiguity: a cytogenetic evaluation of gender

Pattern of Pubertal Changes in Congenital Adrenal Hyperplasia Patients, with Idiopathic Central Precocious Puberty; Case Report

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