ESPE Abstracts

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20^th centile Polish growth chart), length 54cm (99.5^th centile). KZ was well and could converse in English, unlike both parents. KZ’s sister PZ was noted to be tall for the family (see table). On examination, KZ was proportionate with no dysmorphisms and was in Tanner stage B3. Bone age was 11 years at a chronological age of 12.25 years. No short fourth metacarpals were noted but there was some bowing of the radius. Karyotyping for KZ showed mosaic Turner Syndrome, 45, X[20]/46, X, r(X)(p22.3q26)[10]. Her mother also had mosaic Turner karyotype, 45, X[48]/46, X, r(X)(p22.3q26)[2], found after PZ’s results. Mother’s result was known in Poland but was not shared in the first consultation. She was told that she would have problems with puberty and fertility, however puberty was spontaneous and menarche was at aged 13. Mother required treatment to conceive. KZ had spontaneous menarche aged 12.8 years, and was started on growth hormone aged 13. PZ was referred aged 11 with karyotype results of 45, X. She was not dysmorphic, with spontaneous puberty and menarche aged 12. Mother and daughters have normal renal and cardiac structures. Pelvic ultrasound scans in both sisters identified normal appearance of ovaries. Auxology and blood results are presented for the sisters. It is likely that the regions controlling ovarian development and maintenance are proximal to Xp22 and Xq26, with ovarian function intact in this family at varying degrees.