45, Xo Turner's Syndrome without Evidence of Mosaicism in a Patient with two Pregnancies

Abstract

A case of Turner's syndrome (45,XO) with two pregnancies is reported. There was no evidence of mosaicism after chromosomal investigation of 5 different tissues (2 ovaries, blood, skin, uterus). Pregnancy occurred in both cases after withdrawal of substitutional hormone therapy. The first pregnancy ended with abortion of a macerated hydrocephalic female fetus. Chromosome studies could not be carried out. The second pregnancy ended with delivery by caesarian section of a normal boy (46,XY). Prenatal chromosome analysis was not carried out for ethical reasons.

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

“…Mosaicism might have been identified in those 3 patients if other tissues had been examined. The patients reported here and those reported by King et al [8], by Wray et al [ 14] and by Phillip and Sele [12] were examined for evidence of mosaicism on multiple tissues; however, no 46,XX cells were found except for the last case. Of particular interest is the case reported by Goldstein et al [ 15], whose peripheral blood and skin cells were 46,XX, while 45.XO/46.XX mosai cism was found in a streak ovary.…”

“…Spontaneous abortions and stillbirths occurred in 29% (6/21) and 10% (2/21) of these cases, respectively. Dur ing the course of the reported pregnancies, mild pre eclampsia was noted in only 1 patient [5], Body weights at birth for 9 out of 11 livebom infants were over 2,800 g, with a mean body weight of 2,940 g. Three of 15 infants, including 1 stillborn baby, had a congenital anomaly, either hydrocephalus [12], Down's syndrome [10] or partially cleft palate [14], In those 13 patients, 6 (46%) [6,9,[11][12][13] had become amenorrheic within 7 years after delivery.…”

“…Four patients [6,11,13] and the presented case had secondary amen orrhea and 2 [7,9] had oligomenorrhea. Six of 13 patients [5,6,8,12,14], including our own, had received ovulation induction prior to their pregnancies. Five of those have been pregnant twice, and 1 patient 4 times.…”

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

“…Only at laparoscopy or laparotomy are the gonadal abnormalities recognized. The anatomic picture of the internal genitalia of this syndrome has been described in three other cases in the literature, which are not included in this review-the first case 6 because of prenatal virilization of the external genitalia and the age of the patient (2 years) and the other two 7,8 because of Turner's stigmata and 45,X karyotype. The fact that patients with this syndrome undergo normal puberty and some menstrual episodes indicates ovarian function.…”

“…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.…”