ESPE Abstracts

Background: Turner syndrome (TS) affects about one in 2500 liveborn females. It results from the loss of all or part of X-chromosome and has a variable phenotype. The classical form is characterised by short stature, skeletal abnormalities, lymphedema, renal and cardiac anomalies, webbed neck, peculiar neurocognitive profile and gonadal dysgenesis. While loss of up to 2/3 of the X chromosome short arm is compatible with normal fertility, chromosome deletions involving Xq are often associated with abnormalities of menstrual cycles and fertility. A large critical region for normal ovarian function has been located between Xq13 and Xq28 and deletions in these regions have been reported in women with premature ovarian failure.

Case report: We present the case of a 17-year old girl who was referred to our Unit of Pediatric Endocrinology for primary amenorrhea. On physical examination showed: height 143.8 cm (−2.9 SDS), maternal height 147.0 cm (−2.5 SDS), mid-parental height 151.2 cm (−2.0 SDS), BMI 18.5, sitting height/height =0.528, Tanner stage B5, P5, no dysmorphic features. Laboratory investigation showed elevated levels of FSH (237 mIU/ml) and LH (111 mIU/ml), low levels of estradiol (<5 pg/ml) and Inhibin B (3.7 pg/ml) and pelvic ultrasound showed infantile uterus (longitudinal diameter 36 mm) and small ovaries (1 cc) without follicles. Although clinical phenotype was not typical of TS we performed a karyotype analysis that pointed out a large Xq deletion: 46,X del (Xq1.2). The investigation were completed, and all autoimmune diseases as well as renal and cardiac malformations were excluded. Replacement treatment with estroprogestins was started.

Conclusion: Our case confirms that TS patients with large deletions of Xq may exhibit a mild phenotypic expression, characterised by only menstrual disorders and short stature.