Results 211 to 220 of about 110,162 (292)
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Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis
Clinical Genetics, 2021Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been ...
U. Altunoğlu +10 more
semanticscholar +1 more source
Clinical Endocrinology, 2020
The study aimed to identify the genetic basis of partial gonadal dysgenesis (PGD) in a non‐consanguineous family from Estonia.
M. Laan +7 more
semanticscholar +1 more source
The study aimed to identify the genetic basis of partial gonadal dysgenesis (PGD) in a non‐consanguineous family from Estonia.
M. Laan +7 more
semanticscholar +1 more source
Clinical Obstetrics and Gynecology, 1977
The spectrum of patients with gonadal dysgenesis has expanded over the last decade to include cytogenetically normal individuals. Comprehension of the etiology of gonadal maldevelopment in these patients remains tenuous. More careful study of pedigrees involving 46, XX and 46, XY gonadal dysgenesis may provide better understanding of the mechanism of ...
P G, McDonough, J R, Byrd
openaire +2 more sources
The spectrum of patients with gonadal dysgenesis has expanded over the last decade to include cytogenetically normal individuals. Comprehension of the etiology of gonadal maldevelopment in these patients remains tenuous. More careful study of pedigrees involving 46, XX and 46, XY gonadal dysgenesis may provide better understanding of the mechanism of ...
P G, McDonough, J R, Byrd
openaire +2 more sources
Urologia Internationalis, 1996
A 21-year-old phenotypic male with ambiguous external genitalia and hypospadias was referred for cytogenetic studies. Exploratory laparotomy revealed presence of a small atropic uterus, unilateral gonadal dysgenesis with fallopian tubes on both sides and a cryptorchid testis on the left side. No gonad could be traced on the right side.
Frenny Sheth +5 more
openaire +3 more sources
A 21-year-old phenotypic male with ambiguous external genitalia and hypospadias was referred for cytogenetic studies. Exploratory laparotomy revealed presence of a small atropic uterus, unilateral gonadal dysgenesis with fallopian tubes on both sides and a cryptorchid testis on the left side. No gonad could be traced on the right side.
Frenny Sheth +5 more
openaire +3 more sources
Clinical Genetics, 1972
Chromosome examination with analysis of 500 cells in each of the three out of seven females with pure gonadal dysgenesis, who had the karyotype 46, XX, has been made in order to look for chromosome mosaics. The karyotype in two of the three was 46, XX as found from analysis of only 30 cells; one of them had, however, pericentric inversion of chromosome
U. Friedrich, J. Nielsen
openaire +3 more sources
Chromosome examination with analysis of 500 cells in each of the three out of seven females with pure gonadal dysgenesis, who had the karyotype 46, XX, has been made in order to look for chromosome mosaics. The karyotype in two of the three was 46, XX as found from analysis of only 30 cells; one of them had, however, pericentric inversion of chromosome
U. Friedrich, J. Nielsen
openaire +3 more sources
Gonadal Dysgenesis with a Difference
Journal of Pediatric Endocrinology and Metabolism, 2004We report here an exceptional clinical finding of a 46,XY phenotypic female with complete gonadal dysgenesis, but who was found unexpectedly to have absence of the uterus and posterior vagina. Extensive review of current and past literature failed to confirm other reports of this variant form of complete gonadal dysgenesis.
Paddy Moore +5 more
openaire +3 more sources
Acta Endocrinologica, 1975
Mixed gonadal dysgenesis (MCG) is a rare intersexual disorder, characterized in most cases by the presence of a testis and a contralateral streak gonad; in some cases the contralateral gonad may be rudimentary not having differentiated into an ovary or into a testis and in other cases it may be absent.
Albert E. Kalderon +2 more
openaire +3 more sources
Mixed gonadal dysgenesis (MCG) is a rare intersexual disorder, characterized in most cases by the presence of a testis and a contralateral streak gonad; in some cases the contralateral gonad may be rudimentary not having differentiated into an ovary or into a testis and in other cases it may be absent.
Albert E. Kalderon +2 more
openaire +3 more sources
American Journal of Obstetrics and Gynecology, 1970
A case study of gonadal dysgenesis in 3 sisters is presented. The subjects were examined because of failure of the menarche sexual infantilism deafness and speech defects. All had positive buccal smears and a normal 46:XX karyotype. Vaginal cytology revealed a castrate type of specimen. Streak gonads were found upon laparotomy.
Robert B. Greenblatt +2 more
openaire +3 more sources
A case study of gonadal dysgenesis in 3 sisters is presented. The subjects were examined because of failure of the menarche sexual infantilism deafness and speech defects. All had positive buccal smears and a normal 46:XX karyotype. Vaginal cytology revealed a castrate type of specimen. Streak gonads were found upon laparotomy.
Robert B. Greenblatt +2 more
openaire +3 more sources