ESPE Abstracts (2015) 84 FC5.5

Hereditary Turner Syndrome 46,X,rec(X)inv(p21q28) in Six Women and Four Generations: Estimation of Skeletal Effects of GH Treatment

Judith Stoklasovaa, Jana Kaprovaa, Marie Trkovab, Vera Nedomovab, Daniela Zemkovaa, Ondrej Souceka, Jana Matyskovaa, Zdenek Sumnika & Jan Lebla

aDepartment of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic; bGennet, Prague, Czech Republic

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.

Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplication constituting a recombinant X-chromosome. The karyotype was defined as 46,X,rec(X)inv(p21q28). Major phenotypic feature of all affected women was short stature. Other characteristic somatic signs of TS were absent. The women developed spontaneous puberty and regular menses, had normal fertility and regular menopause. Exclusively generation IV received GH. We estimated the effect of GH-treatment on the skeleton by comparing auxological and pQCT data of 39-year-old mother to her 14-year-old daughter. We found expected height gain for the daughter (before//after GH-treatment: −2.5//−0.8 SD) and improved final height (160.3 cm) compared to her mother (150.0 cm/ −2.7 SD). Disproportion progressed for the daughter (before//after GH-treatment: upper body segment: −1.1//1.8 SD; lower body segment: −2.4//−2.2 SD), which confirms major growth-promoting effect on the trunk for patients with SHOX-deficiency. Finally the mother’s disproportion (upper body segment: −0.5 SD; lower body segment: −2.7 SD) was milder compared to the daughter. Peripheral quantitative computed tomography (pQCT) confirmed normal trabecular bone density (mother: 0.1 SD, daughter: 1.9 SD) as well as normal strength-strain index (mother: 2.2 SD, daughter: 1.9 SD).

Conclusion: This rarely found family demonstrates the possibility of vertical transmission of TS spanning multiple generations. Our results confirm significant height gain after GH-treatment and normal bone strength for both, treated and untreated woman. However, our study puts into question the impact of GH-treatment on disproportion.

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