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William H Kutteh - One of the best experts on this subject based on the ideXlab platform.
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monosomy 7 syndrome associated with congenital adrenal hypoplasia and Male Pseudohermaphroditism
Obstetrics & Gynecology, 1996Co-Authors: Sy Q Le, William H KuttehAbstract:Background: Bone marrow monosomy 7 is an uncommon disorder of the pluripotent stem cells that leads to frequent childhood infections and leukemia. Primary adrenal hypoplasia occurs very rarely and is incompatible with life. Male Pseudohermaphroditism results from inadequate androgen secretion or inappropriate androgen action. We report a case of monosomy 7, adrenal hypoplasia, and Male Pseudohermaphroditism. Case: An infant was born with sexual ambiguity and bilateral inguinal masses. Bone marrow karyotype was 45,XY,-7. Serum testosterone level was low normal. The infant died on the fourth day of life. Autopsy revealed severely hypoplastic adrenal glands, inguinal testes, and a vaginal pouch. Conclusion: Monosomy 7 and Male sexual ambiguity are reported in association with primary adrenal hypoplasia of the cytomegalic (X-linked) type.
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Monosomy 7 syndrome associated with congenital adrenal hypoplasia and Male Pseudohermaphroditism.
Obstetrics and gynecology, 1996Co-Authors: William H KuttehAbstract:Bone marrow monosomy 7 is an uncommon disorder of the pluripotent stem cells that leads to frequent childhood infections and leukemia. Primary adrenal hypoplasia occurs very rarely and is incompatible with life. Male Pseudohermaphroditism results from inadequate androgen secretion or inappropriate androgen action. We report a case of monosomy 7, adrenal hypoplasia, and Male Pseudohermaphroditism. An infant was born with sexual ambiguity and bilateral inguinal masses. Bone marrow karyotype was 45, XY,-7. Serum testosterone level was low normal. The infant died on the fourth day of life. Autopsy revealed severely hypoplastic adrenal glands, inguinal testes, and a vaginal pouch. Monosomy 7 and Male sexual ambiguity are reported in association with primary adrenal hypoplasia of the cytomegalic (X-linked) type.
Edward R B Mccabe - One of the best experts on this subject based on the ideXlab platform.
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Adrenal Hypoplasia Congenita and Male Pseudohermaphroditism: New Syndromic Association Association Additional Sex Determining Gene(s)
Pediatric Research, 1999Co-Authors: Eric Vilain, J Aisenberg, Gary R. Freidenberg, Charmain A Quigley, Yao-hua Zhang, Bing-ling Huang, Edward R B MccabeAbstract:Adrenal Hypoplasia Congenita and Male Pseudohermaphroditism: New Syndromic Association Association Additional Sex Determining Gene(s)
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new syndromic association of Male Pseudohermaphroditism with feMale external genitalia and adrenal hypoplasia congenita suggests additional sex determining gene s
Genetics in Medicine, 1999Co-Authors: Eric Vilain, E C Quigley, J Aisenberg, Yh Zhang, Bl Huang, Gary R. Freidenberg, Edward R B MccabeAbstract:New syndromic association of Male Pseudohermaphroditism with feMale external genitalia and adrenal hypoplasia congenita suggests additional sex determining gene(s)
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A New Syndrome of Male Pseudohermaphroditism, Congenital Adrenal Hypoplasia and Hypogonadotropic Hypogonadism † 441
Pediatric Research, 1998Co-Authors: Paul L Hofman, Edward R B Mccabe, Charmian A Quigley, Gary R. FreidenbergAbstract:A New Syndrome of Male Pseudohermaphroditism, Congenital Adrenal Hypoplasia and Hypogonadotropic Hypogonadism † 441
Francis De Zegher - One of the best experts on this subject based on the ideXlab platform.
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nongenetic Male Pseudohermaphroditism and reduced prenatal growth
The New England Journal of Medicine, 2001Co-Authors: Berenice B. Mendonca, Ana Elisa C Billerbeck, Francis De ZegherAbstract:To the Editor: Most cases of Male Pseudohermaphroditism have a genetic origin.1 A nongenetic variant of the disorder, characterized by reduced prenatal growth and the lack of evidence of any associated malformation or endocrinopathy,2 has not been established. We report here on a pair of twins (karyotype, 46,XY) who were born at term after a normal gestation sustained by one placenta. Monozygosity was corroborated by identity for seven informative DNA loci in six chromosomes (D5S818, D13S317, D7S820, VWA, FGA, THO1, and CSF1PO). One boy (birth weight, 3.0 kg; length, 48 cm) had normal genitalia. The twin (birth weight, 1.7 kg; . . .
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Male Pseudohermaphroditism related to complications at conception in early pregnancy or in prenatal growth
Hormone Research in Paediatrics, 1999Co-Authors: Inge Francois, M Van Helvoirt, Francis De ZegherAbstract:Abstract We examined whether Male Pseudohermaphroditism, when unexplained, is associated with reduced prenatal growth. Birth weight SD scores of 29 children with Male pseudohermaphroditis
Berenice B. Mendonca - One of the best experts on this subject based on the ideXlab platform.
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nongenetic Male Pseudohermaphroditism and reduced prenatal growth
The New England Journal of Medicine, 2001Co-Authors: Berenice B. Mendonca, Ana Elisa C Billerbeck, Francis De ZegherAbstract:To the Editor: Most cases of Male Pseudohermaphroditism have a genetic origin.1 A nongenetic variant of the disorder, characterized by reduced prenatal growth and the lack of evidence of any associated malformation or endocrinopathy,2 has not been established. We report here on a pair of twins (karyotype, 46,XY) who were born at term after a normal gestation sustained by one placenta. Monozygosity was corroborated by identity for seven informative DNA loci in six chromosomes (D5S818, D13S317, D7S820, VWA, FGA, THO1, and CSF1PO). One boy (birth weight, 3.0 kg; length, 48 cm) had normal genitalia. The twin (birth weight, 1.7 kg; . . .
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normal bone density in Male Pseudohermaphroditism due to 5alpha reductase 2 deficiency
Revista do Hospital das Clínicas, 2001Co-Authors: Elaine M F Costa, Marlene Inacio, Ivo J. P. Arnhold, Berenice B. MendoncaAbstract:RHCFAP/3050COSTA EMF et al. - Normal bone density in Male Pseudohermaphroditism due to 5α-reductase 2 deficiency. Rev. Hosp. Clin.Fac. Med. S. Paulo 56 (5):139-142, 2001.Bone is an androgen-dependent tissue, but it is not clear whether the androgen action in bone depends on testosterone or ondihydrotestosterone. Patients with 5 α-reductase 2 deficiency present normal levels of testosterone and low levels of dihydrotestosterone,providing an in vivo human model for the analysis of the effect of testosterone on bone.Objective: To analyze bone mineral density in 4 adult patients with Male Pseudohermaphroditism due to 5α-reductase 2deficiency.Results: Three patients presented normal bone mineral density of the lumbar column (L1-L4) and femur neck, and the otherpatient presented a slight osteopenia in the lumbar column.Conclusion: Patients with dihydrotestosterone deficiency present normal bone mineral density, suggesting thatdihydrotestosterone is not the main androgen acting in bone.DESCRIPTOR: Bone mineral density. Male Pseudohermaphroditism. 5 α-reductase type 2 deficiency.It has been well documented in theliterature that gonadal steroids regulatenormal bone metabolism and that in-adequate estrogen concentrations in fe-Males and androgen concentrations inMales cause osteoporosis
M Baraitser - One of the best experts on this subject based on the ideXlab platform.
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Male Pseudohermaphroditism in sibs with the α thalassemia mental retardation atr x syndrome
American Journal of Medical Genetics, 1995Co-Authors: W Reardon, Richard J Gibbons, R M Winter, M BaraitserAbstract:Genital abnormalities have been noted in several patients with the X-linked form of α-thalassemia and mental retardation syndrome (ATR-X). The initial clinical report of the condition documented a phenotypic feMale with 46,XY karyotype. To this we now add 2 further siblings with abnormalities of the external genitalia, manifesting as Male Pseudohermaphroditism. © 1995 Wiley-Liss, Inc.
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Male Pseudohermaphroditism in sibs with the α-thalassemia/mental retardation (ATR-X) syndrome
American journal of medical genetics, 1995Co-Authors: W Reardon, Richard J Gibbons, R M Winter, M BaraitserAbstract:Genital abnormalities have been noted in several patients with the X-linked form of α-thalassemia and mental retardation syndrome (ATR-X). The initial clinical report of the condition documented a phenotypic feMale with 46,XY karyotype. To this we now add 2 further siblings with abnormalities of the external genitalia, manifesting as Male Pseudohermaphroditism. © 1995 Wiley-Liss, Inc.