Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency

Objective: To report on growth pattern and body proportion in the combination of short stature homeobox-containing gene (SHOX) overdosage and gonadal estrogen deficiency. Design: Auxological studies in a 20-year-old Japanese female with 45,X[28]/46,X,psu idic(X)(q28)[72], gonadal estrogen deficiency, and SHOX duplication on the idic(X) chromosome, who received sex steroid replacement therapy from 16 years 8 months of age. Methods: Growth pattern and body proportion were assessed by the age-matched standards for Japanese females. Results: She continued to grow with a mean height velocity of 5.0 cm/year between 8 and 12 years of age and 4.4 cm/year between 12 and 16 years 8 months of age, and ceased to grow shortly after the replacement therapy. The standard deviation score (SDS) for height was -0.9, -1.4, +0.7 and +0.8 at 8, 12, 16 years 8 months and 20 years of age respectively. She showed a unique change in body proportion in her middle teens. At 8, 12, 16 years 8 months and 20 years of age, the SDS for sitting height (SH) was -0.8, -1.1, -0.9 and -0.6 respectively, the SDS for leg length (LL) was - 1.2, - 1.4, + 1.1 and + 1.4 respectively, and the SDS for SH/LL ratio was + 0.6, + 0.4, - 1.6 and - 1.7 respectively. Conclusions: The results provide further support for the notion that the combination of SHOX over-dosage and gonadal estrogen deficiency permits continued growth with a roughly constant height velocity throughout the pubertal period of normal children, and suggest that the height gain in that period is primarily ascribed to the LL increase, as expected from SHOX expression in the distal limb bone.