Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function

Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.

OBJECTIVE: To report on auxological data in the combination of SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function. DESIGN: Longitudinal auxological study in a 14 Year 9 Month old Japanese girl with Leri-Weill dyschondrosteosis accompanied by mesomelic short stature, who had a submicroscopic pseudoautosomal deletion involving SHOX, and pubertal development of an almost average tempo. METHODS: Auxological data were assessed by the age-matched standards for Japanese females. RESULTS: The standard deviation scores (SDSs) for height, leg length (LL), and arm span remained below the normal range from childhood and worsened during puberty, whereas those for sitting height (SH) remained within the normal range and stayed almost constant throughout the observation period. Consequently, the SDSs for SH/LL ratio remained above the normal range from childhood and deteriorated during puberty. The decreased pubertal height gain was caused by a diminished pubertal height spurt and abrupt growth cessation shortly after menarche. The SDSs for hand length and palm length remained within the normal range but decreased during puberty, and those for head circumference remained within the normal range and stayed almost constant throughout the observation period. CONCLUSIONS: The results suggest that, in individuals with SHOX haploinsufficiency and normal ovarian function, auxological abnormalities related to mesomelia are evident from childhood and worsen further during puberty because of the skeletal maturing effects of ovarian estrogens.