Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism. 2004

Kerstin Landin-Wilhelmsen, and Inger Bryman, and Charles Hanson, and Lars Hanson
Endocrine Division, Sahlgrenska University Hospital, Göteborg, Sweden. kerstin.landin@sahlgrenska.se

OBJECTIVE To present a case involving pregnancies in a Turner woman with Y-chromosome mosaicism. METHODS A descriptive case report of a single patient. RESULTS A 39-year-old woman was admitted to the endocrine clinic due to fatigue and premature menopause. She had tried in-vitro fertilization and oocyte donation twice without pregnancies but became spontaneously pregnant at age 36 and 37 and delivered two girls. During the seventh month of the second pregnancy, a dissecting aortic aneurysm, a coarctation, and subsequently a pheochromocytoma were detected and repaired. Hypothyroidism developed. Turner syndrome was diagnosed. Fluorescence in situ hybridization (FISH) analysis of lymphocytes revealed 31% XY cells and 4% XYY cells, while 66% of buccal cells had an XY constitution. Oophorectomy revealed no malignancy. FISH revealed 54% XY cells in the left gonad and 38% XY cells in the right. CONCLUSIONS Turner syndrome should be suspected in women with aortic dissection, in general, but especially in those with additional features such as horseshoe kidney, coarctation, and infertility.

UI MeSH Term Description Entries
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014424 Turner Syndrome A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis, 45,X,Gonadal Dysgenesis, XO,Monosomy X,Status Bonnevie-Ullrich,Turner's Syndrome,Ullrich-Turner Syndrome,Bonnevie Ullrich Syndrome,Status Bonnevie Ullrich,Syndrome, Ullrich-Turner,Turners Syndrome,Ullrich Turner Syndrome,XO Gonadal Dysgenesis
D041322 Chromosomes, Human, Y The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans. Y Chromosome, Human,Chromosome, Human Y,Chromosomes, Human Y,Human Y Chromosome,Human Y Chromosomes,Y Chromosomes, Human

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