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Biomedical subjects

J R Byrd

Publications and source records attributed to J R Byrd.

At least 37 records · Page 2Linked to original sources
PubMed1979

True hermaphroditism with peripheral blood and gonadal karyotyping.

Eight documented cases of true hermaphroditism have been seen in the reproductive endocrine unit at the Medical College of Georgia since 1969. There was histologic evidence of both ovarian and testicular tissue in all cases. Seven patients had peripheral blood karyotypes: 6 had normal 46,XX peripheral blood karyotypes, and 1 patient had a normal 46,XY blood karyotype. Four of the 7 patients studied had chromosomal analysis of 1 or both gonads. Five gonads were karyotyped as 46,XX and 1 revealed a mosaic gonadal pattern of 46,XX/46,XY. The clinical features, anatomic findings, and cytogenetic studies of these patients are reviewed. Discordant findings in peripheral blood and gonadal chromosomes are discussed.

Adolescent↗
PubMed1977

Cytogenetic findings in fifty-five couples with recurrent fetal wastage.

Balanced chromosomal translocations in parents and Müllerian abnormalities constitute defined causes of reproductive wastage. Fifty-nine couples with histories of recurrent abortion with or without fetal malformations were evaluated with cytogenetic studies and gynecography. In 44 of the couples with pure abortion histories of two or more spontaneous abortions, three (6.8%) balanced carrier parents were identified. In 11 couples with a mixed history of abortion plus fetal malformation, 3 (27.3%) had balanced translocations in one of the parents. The over-all incidence of Müllerian abnormalities in the group of 59 patients was 11.9%.

Abortion, Habitual↗
PubMed1977

Twins discordant for 46,XX gonadal dysgenesis.

This case report describes twin sisters, one with rudimentary streak gonads and the other with normal ovarian function. Both siblings had normal 46, XX karyotypes, and zygosity testing indicated that they were identical twins. Discordance of identical twins for 46, XX pure gonadal dysgenesis suggests that environmental factors may be a causative factor in some of the karyotypically normal 46,XX forms of gonadal dysgenesis.

Adolescent↗
PubMed1977

Phenotypic and cytogenetic findings in eighty-two patients with ovarian failure--changing trends.

Eighty-two patients with primary ovarian failure were evaluated clinically and cytogenetically. Sex chromosome privations were present in 52 individuals (chromosomally incompetent ovarian failure [CIOF]). A normal chromosomal constitution was present in 30 individuals (chromosomally competent ovarian failure [CCOF]). Limited estrogenic function (menses) occurred in 11.5% of the CIOF group and 40% of the CCOF group. The phenotypic features of each group are detailed in relation to chromosomal constitution, stature, estrogenic ridge function, incidence of dysgenetic tumors, and cardiovascular renal malformations. The increasing percentage of patients with CCOF due to possible diverse etiologies is noted and discussed.

Child↗
PubMed1977

Gonadal dysgenesis.

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 ovarian failure in these individuals. An important approach will be to identify other disorders occurring in conjunction with primary ovarian failure that can serve as genetic markers for linkage studies. The next decade must provide information that transcends gross structural alterations in sex chromosomes.

Amenorrhea↗
PubMed1976

Pure gonadal dysgenesis with an XY chromosomal constitution (Swyer's syndrome): Report of two cases.

Two cases of Swyer's syndrome, characterized by rudimentary streaks in association with a 46,XY chromosome karyotype are reported. Both individuals were tall, with sparse axillary and pubic hair, and breasts were undeveloped in one and well developed in the other (she had some estrogen therapy). One had infantile but otherwise normal external genitals, while the other had poor development of labia majora and no clitoris. The vagina in each was normal, with a small cervix and uterus, and vaginal smears of the preadolescent type. Urinary 17-ketosteroids were normal, while gonadotropin levels were elevated. The gonadal streaks were extirpated, and histologic examination revealed the presence of fibrous stroma but no ova or follicles. Scattered clumps of Leydig cells and mesonephris remnants were found in one patient. Both patients responded well to cyclic hormonal therapy, i.e., menstrual withdrawal bleeding and breast development.

Adolescent↗
PubMed1976

Ovarian and peripheral venous steroids in XY gonadal dysgenesis and gonadoblastoma.

Determinations of multiple steroids were made on ovarian and peripheral blood in a 46,XY patient with bilateral gonadoblastoma. The right gonadoblastoma had undergone complete calcific ablation. The principal viable cellular elements in the left gonadoblastoma were Leydig cells. Except for a borderline increase over peripheral levels of estradiol, the degenerated right tumor mass showed no evidence of endocrine activity. Venous blood emanating from the left cellular gonadoblastoma exhibited significant elevations of testosterone, progesterone, and estradiol as compared to peripheral blood. Viable sex cord elements were present in the left tumor mass but did not exhibit sufficient steroid activity to have demonstrable clinical manifestations.

Adolescent↗