Turner-Down syndrome mosaicism with spontaneous pregnancy and birth of a normal female

GRACIELA DEL REY ; VIVIANA PIPMAN

Milán

Congreso; 9th Joint Meeting of Paediatric Endocrinology ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP.; 2013

ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP

Background: Double aneuploidy Down-Turner syndrome (DS-TS) is a rare chromosomal disorder. Most of reported cases have the typical phenotye DS with mosaicism of different varieties, only some show characteristics of both syndromes, and none present features of TS alone. Fertility in TS is a very rare event. Nearly 5-10% of girls have spontaneous puberty and menses. In 2-7% of all cases the pregnancy is a result of a spontaneous ovulation and is associated with a high proportion of miscarriages, stillbirths, and chromosomal abnormalities. Due to the severe complications, the pregnancy in these patients is considered of high risk.Objective and hypotheses: To provide data of a woman with Down-Turner syndrome and pregnancy. On the follow-up she presented clinical features of Turner syndrome without clear stigmata of Down syndrome. Methods: One patient, was referred for short stature at age 5 (Height 94.5cm <3.22 SD WHO; Weight 12.5Kg<2.77 SD WHO). Infancy showed delay in growth development. Examination: high palate, clinodactyly left hand, slight cubitus valgus, hiperconvexas nails in hands and feet, short 4th and 5th metacarpals, dysmorphic ears, nevi, shield chest, low posterior hairline, hiperthelorism breast, epicanthus, tonsillar hypertrophy, hearing loss, frequent otitis, delayed bone age, and learning disorders. Normal laboratory tests. No renal and cardiologic malformations were found. She was treated with rhGH between 9.8 and 14 years old. Spontaneous pubertal development at 10.3 and menarche at 11.3 years old.Results: Cytogenetic analysis of peripheral blood samples by G-banding revealed mosaicism 45,X[46]/47,XX,+21[4]. At age 22.7 she had an uneventful pregnancy, giving birth to a girl with 3.100g birth weight and normal chromosome constitution. She is now 3.6 years old. Height: 99.1cm(Pc35); Weight: 15.6 Kg(Pc55). Normal clinical features. Conclusions: This is the first case of pregnancy in a patient with Turner-Down syndrome resulted in a healthy baby.