Fertility in women with gonadal dysgenesis

Turner’s Syndrome – Review of the Literature with Reference to a Successful Pregnancy Outcome

“…This could be due to premature ovarian aging [42], This may indicate that pregnancy in monosomy X patients ap pears to have a better outcome than in 45,XO mosaic patients [8,14,42] having abnormal infants. From the viewpoint of the increased risk of offspring having chromosomal anoma lies, in case those patients with monosomy X (mosaic or nonmosaic) might be pregnant, the couple should be counselled with regard to the possible abnormalities in the fetuses and the need for their cytogenetic studies so that abortion can be made available.…”

Ullrich‐Turner syndrome in mother and daughter: Prenatal diagnosis of a 46, X, del(X)(p21) offspring from a 45, X mother with low‐level mosaicism for the del(X)(p21) in one ovary

“…Fertility has also been described in mosaic UTS women without detectable mosaicism for a 46,XX cell line [Reyes et al, 1976;Shokeir, 19781, but these women had a 47,XXX cell line. When pregnancies do occur in UTS women, miscarriages, stillbirths, cytogenetic abnormalities, and anatomic defects seem to occur with increased frequency [Reyes et al, 1976;King et al, 1978;Nielsen et al, 1979;Singh et al, 1980;Mavel et al, 1980;Swapp et al, 19891. This mother's UTS may therefore explain her first pregnancy ending in a miscarriage.…”

Unilateral Streaked Ovary (Slotnick-Goldfarb) Syndrome: A Case Report and Review of the Literature

“…The first is based on a case of Slotnick-Goldfarb syndrome described by Purandare and Sathe, 3 where the patient had a sister affected with 46,XX bilateral gonadal dysgenesis, and the familial occurrence of the latter is well known. 9 The second is based on the example of functional gonadal asymmetry in the horseshoe bat (described by Mathews as cited by Ghirardini and LaSala 4 ), where the left ovary is smaller than the right and its follicles fail to mature. In these mammals, the anatomical and the functional ovarian picture is therefore very similar to that of the Slot-nickGoldfarb syndrome, although to a lesser extent.…”

“…The rate of this depletion presents a spectrum of clinical presentation ranging from cases of classical complete gonadal dysgenesis to cases of gonadal dysgenesis with variable degrees of sexual maturity. 8,9 Thus, it is possible that the unilateral gonadal dysgenesis in the SlotnickGoldfarb syndrome, in the presence of 46,XX karyotype, is due to an undetectable chromosome deletion. The concept of differential gonadal growth and the disturbance in follicular preservation could be a possible explanation of the invariable distribution of gonadal laterality in cases of Slotnick-Goldfarb syndrome.…”