The Principles of Clinical Cytogenetics - Extra Materials - Springer

248 Linda Marie Randolph
Fig. 1. Flow diagram for the workup of a woman with delayed puberty. (Courtesy of Dr. Lawrence Layman.)
PCOS = polycystic ovary syndrome. CAIS = complete androgen insensitivity syndrome. FSH = follicle stimulating
hormone. LH = luteinizing hormone. Asherman syndrome = adhesions from prior uterine curettage.
to 25% have some breast development (3). Two to three percent of 45,X women and 10–15% of
women with mosaic 45,X undergo normal pubertal development and menarche but are highly likely
to undergo secondary amenorrhea (3,4).
Of those who undergo menarche, their only manifestation of a sex chromosome abnormality might
be short stature. Thus, blood chromosome analysis is recommended when a woman has short stature
and reproductive failure.
More than 100 pregnancies have been reported in women with a 45,X cell line that did not use
assisted reproduction techniques such as in vitro fertilization (IVF). Kaneko et al. reviewed the literature
on 138 pregnancies in 62 women with a 45,X cell line, many of whom had a second cell line (5).
Thirteen 45,X patients had 21 pregnancies; 22 45,X/46,XX women had 50 pregnancies; 12 patients
with 45,X/47,XXX had 20 pregnancies; 44 pregnancies were from 14 patients with 45,X/46,XX/
47,XXX; and 1 patient with 45,X/46,XX/47,XXX/48,XXXX had 3 pregnancies. None were reported
in women with a 46,XY cell line without IVF.
Among 13 women with 45,X without mosaicism, 6 of 21 pregnancies ended in spontaneous abortions
and 2 of 21 ended in stillbirth, including 1 with hydrocephalus. Another three culminated in a
pregnancy and/or offspring with a chromosome abnormality or significant birth defect (one Down
syndrome, one 45,X, one with a partial cleft of the soft palate).