A Fertile Female With Xo Sex Chromosome Constitution

Two Cases of Gonadal Dysgenesis with Typical Female Chromosomal Pattern

“…Buhner's [2] patient with ovarian dysgenesis who became pregnant, and Kinch's [30] patient with ovarian follicular dysgenesis are strong argum ents to postulate histological and genetic confirmation of the diagnosis. The cases of Jacobs [20] are mentioned in the table, although she included among streak ovaries gonads which occasionally contain a follicle.…”

“…The clinical findings range from those described in Turner's original paper [30] to those of a fertile patient with the chromosomal pattern XO described by Bultner et til. [2]. This variability led Ferguson-Smith, in a recent study, to propose a new hypothesis on homologous seg ments of the X and Y chromosome to explain karvotvpe-phcnotvpc relationships [14], It is the purpose of this communication to present two further patients with gonadal dysgenesis and normal female karyotype in all examined tissues, including fibroblasts from ovarian streaks.…”

Turner's syndrome with menstruation.

“…Bahner et al (1960a) reported a patient with Turner's syndrome (45,X in some 100 skin fibroblasts and sternal bone marrow cells) who gave birth to a son. The karyotype in 21 fibroblasts of the ovary of this 40-year-old woman (height 136 cm) was found to be 45,X as well (Bahner et al, 1960b) and they concluded that a 'single X chromosome is capable of guaranteeing a full generative fertility'. London et al (1964) recorded the case of a 28-yearold woman who had menstrual periods for 5 years and then became amenorrhoeic.…”

Recent developments in human cytogenetics

“…Although genital abnormalities may occur in patients with chromosomal abnormalities, sexual development is usually normal, and fertility has been reported in several XXX individuals (Fraser, et al, 1960;Jacobs, et al, 1960;Stewart and Sanderson, 1960) and in one XO individual (Bahner, et al, 1960). If the interphase chromatin pattern and the presence of a male, female or intersexual phenotype are used as the basis for classifying the chromosomal abnormalities (Table 1) several points are emphasized.…”