The Experts below are selected from a list of 204 Experts worldwide ranked by ideXlab platform
Ariachery C. Ammini - One of the best experts on this subject based on the ideXlab platform.
-
molecular diagnosis of 5α reductase 2 gene mutation in two indian families with male Pseudohermaphroditism
Asian Journal of Andrology, 2008Co-Authors: Marumudi Eunice, Bindu Kulshreshtha, Madan L. Khurana, Praveen E. Pulikkanath, Kiran Kucheria, Françoise Audran, Pascal Philibert, Charles Sultan, Françoise Paris, Ariachery C. AmminiAbstract:Aim: To identify the genotype of two Indians with male Pseudohermaphroditism. Methods: Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5αreductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results: We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with Pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India. Conclusion: Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect. (Asian J Androl 2008 Sep; 10: 815–818)
-
Molecular diagnosis of 5α-reductase-2 gene mutation in two Indian families with male Pseudohermaphroditism
Asian Journal of Andrology, 2008Co-Authors: Marumudi Eunice, Cornel Sultan, Bindu Kulshreshtha, Madan L. Khurana, Praveen E. Pulikkanath, Kiran Kucheria, Françoise Audran, Pascal Philibert, Françoise Paris, Ariachery C. AmminiAbstract:To identify the genotype of two Indians with male Pseudohermaphroditism.
-
Familial male Pseudohermaphroditism
Indian Journal of Pediatrics, 1997Co-Authors: Ariachery C. Ammini, Kiran Kucheria, D. C. Sharma, R. K. Gupta, Mohapatra I, Alka Kriplani, D. Takkar, D. K. Mitra, M VijayaraghavanAbstract:Familial male Pseudohermaphroditism (MPH) due to 17, 20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17, 20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17, 20-desmolase deficiency.
Marumudi Eunice - One of the best experts on this subject based on the ideXlab platform.
-
molecular diagnosis of 5α reductase 2 gene mutation in two indian families with male Pseudohermaphroditism
Asian Journal of Andrology, 2008Co-Authors: Marumudi Eunice, Bindu Kulshreshtha, Madan L. Khurana, Praveen E. Pulikkanath, Kiran Kucheria, Françoise Audran, Pascal Philibert, Charles Sultan, Françoise Paris, Ariachery C. AmminiAbstract:Aim: To identify the genotype of two Indians with male Pseudohermaphroditism. Methods: Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5αreductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results: We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with Pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India. Conclusion: Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect. (Asian J Androl 2008 Sep; 10: 815–818)
-
Molecular diagnosis of 5α-reductase-2 gene mutation in two Indian families with male Pseudohermaphroditism
Asian Journal of Andrology, 2008Co-Authors: Marumudi Eunice, Cornel Sultan, Bindu Kulshreshtha, Madan L. Khurana, Praveen E. Pulikkanath, Kiran Kucheria, Françoise Audran, Pascal Philibert, Françoise Paris, Ariachery C. AmminiAbstract:To identify the genotype of two Indians with male Pseudohermaphroditism.
Françoise Paris - One of the best experts on this subject based on the ideXlab platform.
-
molecular diagnosis of 5α reductase 2 gene mutation in two indian families with male Pseudohermaphroditism
Asian Journal of Andrology, 2008Co-Authors: Marumudi Eunice, Bindu Kulshreshtha, Madan L. Khurana, Praveen E. Pulikkanath, Kiran Kucheria, Françoise Audran, Pascal Philibert, Charles Sultan, Françoise Paris, Ariachery C. AmminiAbstract:Aim: To identify the genotype of two Indians with male Pseudohermaphroditism. Methods: Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5αreductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results: We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with Pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India. Conclusion: Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect. (Asian J Androl 2008 Sep; 10: 815–818)
-
Molecular diagnosis of 5α-reductase-2 gene mutation in two Indian families with male Pseudohermaphroditism
Asian Journal of Andrology, 2008Co-Authors: Marumudi Eunice, Cornel Sultan, Bindu Kulshreshtha, Madan L. Khurana, Praveen E. Pulikkanath, Kiran Kucheria, Françoise Audran, Pascal Philibert, Françoise Paris, Ariachery C. AmminiAbstract:To identify the genotype of two Indians with male Pseudohermaphroditism.
-
Ambiguous Genitalia in the Newborn
Seminars in Reproductive Medicine, 2002Co-Authors: Charles Sultan, Claire Jeandel, Serge Lumbroso, Françoise Paris, R B GaliferAbstract:Ambiguous genitalia in the newborn need immediate and rational management. This complex situation requires a strategy of clinical, hormonal, genetic, molecular, and radiographic investigation to determine the etiology of the intersex state and orient the therapeutic approach. Physical examination is key to diagnosis. Careful palpation to locate gonads at the genital folds or in the inguinal region provides the first element for diagnostic orientation. If gonads are absent, a diagnosis of female Pseudohermaphroditism seems advisable; if gonads are palpated, a diagnosis of male Pseudohermaphroditism is more appropriate. Karyotyping is systematic while polymerase chain reaction (PCR) analysis of the SRY gene provides information about the presence of a Y chromosome within 1 day. Hormonal investigation should be based on clinical and genetic orientation. Substantially elevated plasma 17-OH progesterone will confirm the diagnosis of congenital adrenal hyperplasia due to deficiency in 21-hydroxylase. Testicular stimulation with human chorionic gonadotropin (hCG) will determine the functional value of testicular tissue. Exploration of the genitourinary axis is principally carried out by ultrasound and genitography. By the end of these investigations, the medical team should be able to give a precise diagnosis. Female Pseudohermaphroditism may be due to excess fetal androgens (congenital adrenal hyperplasia), increased androgen production of maternal origin, or placental androgen excess. In male Pseudohermaphroditism, if testosterone rises normally after hCG stimulation, androgen resistance is indicated. If it does not rise after this test, either testicular dysgenesis or disturbance in testosterone biosynthesis may be responsible. The assignment of sex for rearing must be guided by the etiology of the genital malformation, the anatomic condition, and family considerations. In cases of female Pseudohermaphroditism, the newborn should always be declared to be of female sex at birth. In cases of male Pseudohermaphroditism, great care should be taken in the declaration of male sex: the potential for reconstructive surgery and the pubertal programmed response of the external genitalia to endogenous and exogenous testosterone are determinant. Management of ambiguous genitalia in the newborn requires an entire multidisciplinary team in every step of the diagnostic procedure, the choice of sex assignment, and the treatment strategy.
Andrea Trevas Macielguerra - One of the best experts on this subject based on the ideXlab platform.
-
morphometry and histology of gonads from 13 children with dysgenetic male Pseudohermaphroditism
Archives of Pathology & Laboratory Medicine, 2009Co-Authors: Marcia Ribeiro Scolfaro, Maria Tereza Matias Baptista, Andrea Trevas Macielguerra, Izilda Aparecida Cardinalli, E G Stuchiperez, Maricilda Palandi De Mello, Juliana Godoy Assumpcao, Joaquim Murray Bustorff Silva, Gil GuerraAbstract:Abstract Background.—Dysgenetic male Pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent mullerian structures, and cryptorchidi...
-
female Pseudohermaphroditism due to classical 21 hydroxylase deficiency in a girl with turner syndrome
Clinical Genetics, 2008Co-Authors: Andrea Trevas Macielguerra, Gil Guerra, Sofia Helena Valente De Lemos Marini, Maria Tereza Matias Baptista, Antonia Paula MarquesdefariaAbstract:We report on a rare case of female Pseudohermaphroditism due to classical 21-hydroxylase deficiency associated with Turner syndrome (45,X/46,XX). Difficulties in the management of both diseases are briefly discussed. We regard this rare combination as a coincidental occurrence.
-
idiopathic male Pseudohermaphroditism is associated with prenatal growth retardation
European Journal of Pediatrics, 2005Co-Authors: Francisco De Machado Neto, Andrea Trevas Macielguerra, Andre Moreno Morcillo, Gil GuerrajuniorAbstract:About 50% of intersex cases are due to male Pseudohermaphroditism, and of these cases, 50% are not clarified aetiologically. The association of idiopathic male Pseudohermaphroditism and prenatal growth retardation has been recently reported. The aim of this study was to verify whether there was a difference in weight and/or length at birth between idiopathic and non-idiopathic male Pseudohermaphroditism patients. A total of 70 patients with male Pseudohermaphroditism were recruited; 35 non-idiopathic and 35 idiopathic. Birth weight and length were converted to z scores, and the severity of genital ambiguity was classified according to Prader grades: less virilised (Prader 1 to 3) and more virilised (Prader 4 or 5). Data were analysed using a Mann-Whitney test, odds ratio and logistic regression analysis. Birth weight ( P =0.028) and length ( P =0.01) z scores were lower in the idiopathic male Pseudohermaphroditism group compared to the non-idiopathic group and were also significantly decreased among the less virilised patients, both in the sample as a whole (weight z score, P =0.002; length z score, P =0.0008) and in the group of idiopathic patients (weight z score, P =0.013; length z score, P =0.007). According to logistic regression analysis, only birth length z score significantly predicted the severity of the genital ambiguity in patients with idiopathic male Pseudohermaphroditism ( P =0.0007). Conclusion:There is an association between prenatal growth retardation and male Pseudohermaphroditism which may be due to genetic factors not clarified yet or to environmental factors which act early in gestation.
Kiran Kucheria - One of the best experts on this subject based on the ideXlab platform.
-
molecular diagnosis of 5α reductase 2 gene mutation in two indian families with male Pseudohermaphroditism
Asian Journal of Andrology, 2008Co-Authors: Marumudi Eunice, Bindu Kulshreshtha, Madan L. Khurana, Praveen E. Pulikkanath, Kiran Kucheria, Françoise Audran, Pascal Philibert, Charles Sultan, Françoise Paris, Ariachery C. AmminiAbstract:Aim: To identify the genotype of two Indians with male Pseudohermaphroditism. Methods: Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5αreductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results: We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with Pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India. Conclusion: Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect. (Asian J Androl 2008 Sep; 10: 815–818)
-
Molecular diagnosis of 5α-reductase-2 gene mutation in two Indian families with male Pseudohermaphroditism
Asian Journal of Andrology, 2008Co-Authors: Marumudi Eunice, Cornel Sultan, Bindu Kulshreshtha, Madan L. Khurana, Praveen E. Pulikkanath, Kiran Kucheria, Françoise Audran, Pascal Philibert, Françoise Paris, Ariachery C. AmminiAbstract:To identify the genotype of two Indians with male Pseudohermaphroditism.
-
Familial male Pseudohermaphroditism
Indian Journal of Pediatrics, 1997Co-Authors: Ariachery C. Ammini, Kiran Kucheria, D. C. Sharma, R. K. Gupta, Mohapatra I, Alka Kriplani, D. Takkar, D. K. Mitra, M VijayaraghavanAbstract:Familial male Pseudohermaphroditism (MPH) due to 17, 20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17, 20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17, 20-desmolase deficiency.
