BACKGROUND: Terminal Xp deletion leads to SHOX haploinsufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature. CASE REPORT: We present a family with vertical transmission of TS that affected six women in four sequential generations. The karyotype was defined as a combination of terminal Xp deletion and terminal Xq duplication: 46,X,rec(X)inv(p21.1q27.3). All affected women had short stature, but had developed spontaneous puberty and normal fertility. Generation IV exclusively received recombinant human growth hormone (rhGH). We investigated the effect of rhGH treatment on skeletal growth and body proportion via the comparison of auxological data from an untreated 39.7-year-old mother to her 14.8-year-old rhGH-treated daughter. The adult height of the daughter was substantially better than that of the mother [160.3 cm (-0.8 SDS) and 150.0 cm (-2.7 SDS), respectively]; however, the disproportion progressed following rhGH treatment and ultimately led to a worse trunk-to-extremities ratio compared with the mother (4.8 and 3.7 SDS, respectively). CONCLUSION: This rare family confirms the vertical transmission of TS spanning multiple generations. The combination of endogenous estrogen production and exogenous rhGH administration in women with SHOX haploinsufficiency may worsen their body disproportion.

Department of Pediatrics 2nd Faculty of Medicine Charles University Prague and Motol University Hospital and GENNET Prague Czech Republic

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