ESPE Abstracts

Background: Turner syndrome (TS) is a common chromosomal disorder affecting approximately 1:2500 live female births caused by partial or complete absence of one X chromosome. Its most common clinical features are short stature and gonadal insufficiency. Only about a third of girls with Turner syndrome may have spontaneous puberty.

Objective: The aimof this case presentation is to describe the clinical manifestations in the first Bulgarian patient who was diagnosed with 45,X/47,XXX mosaic TS.

Case presentation: A 12-years-and-5-months-old girl was brought to a pediatric endocrinology clinic to undergo evaluations for short stature and absent menarche. The patient was the second child of healthy parents, born naturally at full term with birth weight of 2.650 kg. She had no other significant medical history and had achieved normal developmental milestones. She was in the sixth grade of elementary school and was performing well at school. There was no familial history of inherited or congenital disease apart from the parental short stature (father 163.0 cm, mother 144.8 cm, mid-parental height 147.4±7.5 cm). On physical examination, the girl’s height was 124.9 cm (–3.47 SDS), and her weight was 17.8 kg (–6.03 of the SD). Clinical examination showed low hairline, hirsutism on the face and the body, with no other typical features of the syndrome. Her Tanner stage was breast III, pubic hair III, and axillary hair II, with normal external genitalia. Her serum laboratory test results revealed LH 0.206 mIU/mL (1.1-11.6), FSH 0.522 mIU/mL (2.8-11.3), IGF-1 153 ng/mL (170 - 527) and estradiol 81.07 pmol/L (0 – 529.2). Her CBC and comprehensive metabolic panel were normal. Her bone age was 11.78 years, (-0.59 SDS) according to the Greulich&Pyle standard (BoneXpert). The pelvic sonography and echocardiography were normal. Cytogenetic analysis of blood lymphocytes revealed TS mosaicism with 45,X(30 cells)/47,XXX(20 cells). Treatment with LHRH agonist and rhGH was started.

Conclusion: The clinical manifestation in mosaic variants of Turner syndrome is usually milder compared to the classic one. The presented patient highlights the importance of karyotyping as a part of the initial investigations of short stature even if the phenotype is not suggestive of Turner syndrome.