In GH-treated girls with Turner syndrome height prognosis may sometimes exceed target height: a case report

Abstract

A 5-years-old girl was diagnosed with Turner syndrome (TS) during a diagnostic work-up for short stature and dysmorphic features. Chromosome analysis revealed rare X-chromosomal abnormalities 46 Xt (13:X) (p12:q24). GH therapy was started at the age of 5.5 years, and continued for 7 years with a fixed dose of 0.33 mg/kg/week, until adult height (AH) achievement. Six-monthly assessment of height standard deviation score and height velocity was performed under therapy, evaluating a prepubertal height gain of 31.7 cm and pubertal height gain of 20 cm. She achieved an AH of 159.3 cm, better than her target height (156.8 cm). In addition, she underwent spontaneous puberty at the age of 9.6 years, completed with menarche at 11.6 years and followed by regular menstrual cycles. During GH treatment, IGF-1, insulin and glucose blood levels remained within a normal range. The early onset of GH therapy may have allowed such a successful height outcome, with the achievement of full stature recovery during childhood and puberty in this TS case. The rare karyotype of our patient may also positively influenced her height final result.

Keywords

• Turner syndrome
• GH therapy
• adult height