Familial ovarian dysgenesis in 46,XX females

D. L. Vesely, R. H. Bower, Peter Kohler, F. Char

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Three phenotypic female sisters in a sibship of four sisters and one brother were found to have pure ovarian dysgenesis, which was confirmed by the finding of streak gonads at laparotomy in two of the three sisters who presented with amenorrhea and lack of secondary sexual characteristics. No evidence of any other congenital anomaly was found in any of these sisters. Pure gonadal dysgenesis syndrome distinguishes a group of women with primary gondal failure with amenorrhea whose heights are over 152 cm and who are without either webbed necks or any of the other somatic anomalies that are characteristic of Turner's syndrome. Cytogenetic studies revealed a normal female (46,XX) karyotype in all the affected members. Endocrine studies indicated that the affected sisters had elevated FSH and LH values with decreased plasma estradiol and urinary estrogen determinations. This is the second report of a family with 46,XX karyotype that meets all the criteria for the pure gonadal dysgenesis syndrome. The multiple affected sibs suggests an autosomal recessive mode of inheritance.

Original languageEnglish (US)
Pages (from-to)157-166
Number of pages10
JournalAmerican Journal of the Medical Sciences
Volume280
Issue number3
StatePublished - 1980
Externally publishedYes

Fingerprint

Siblings
Gonadal Dysgenesis
Amenorrhea
Karyotype
Turner Syndrome
Gonads
Cytogenetics
Laparotomy
Estradiol
Estrogens
Neck

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Vesely, D. L., Bower, R. H., Kohler, P., & Char, F. (1980). Familial ovarian dysgenesis in 46,XX females. American Journal of the Medical Sciences, 280(3), 157-166.

Familial ovarian dysgenesis in 46,XX females. / Vesely, D. L.; Bower, R. H.; Kohler, Peter; Char, F.

In: American Journal of the Medical Sciences, Vol. 280, No. 3, 1980, p. 157-166.

Research output: Contribution to journalArticle

Vesely, DL, Bower, RH, Kohler, P & Char, F 1980, 'Familial ovarian dysgenesis in 46,XX females', American Journal of the Medical Sciences, vol. 280, no. 3, pp. 157-166.
Vesely, D. L. ; Bower, R. H. ; Kohler, Peter ; Char, F. / Familial ovarian dysgenesis in 46,XX females. In: American Journal of the Medical Sciences. 1980 ; Vol. 280, No. 3. pp. 157-166.
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