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<p>Goltz syndrome, also known as focal dermal hypoplasia, is an X-linked dominant genetic disorder caused by mutations in the PORCN gene, mainly characterized by developmental impairments affecting the skin, hair, bones, teeth, and eyes. This study reports a case with extensive skin dysplasia, limb malformations, and short stature. The genomic DNA whole exome sequencing of the child at 1 month of age revealed a mutation in the PORCN gene, confirming the diagnosis of Goltz syndrome. When she was 3 years old, she suffered from weight loss (W&lt;-3SD) and was short for her age (H&lt;-3SD). The growth hormone stimulation test confirmed growth hormone deficiency. She was treated with long-acting growth hormone (0.2&#xa0;mg/Kg/week) for 2 years and 9 months, leading to a significant increase in height, with an average annual growth rate of 9.4&#xa0;cm, without any side effects after three years of follow-up. Goltz syndrome with short stature may be associated with growth hormone deficiency, and long-term growth hormone therapy can achieve clinical benefit.</p>

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Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up

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  • 发表日期：

    2025年10月2日

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  • Jinghui Zhang,
  • Nana Qiao,
  • Xiaochun Li

摘要

Goltz syndrome, also known as focal dermal hypoplasia, is an X-linked dominant genetic disorder caused by mutations in the PORCN gene, mainly characterized by developmental impairments affecting the skin, hair, bones, teeth, and eyes. This study reports a case with extensive skin dysplasia, limb malformations, and short stature. The genomic DNA whole exome sequencing of the child at 1 month of age revealed a mutation in the PORCN gene, confirming the diagnosis of Goltz syndrome. When she was 3 years old, she suffered from weight loss (W<-3SD) and was short for her age (H<-3SD). The growth hormone stimulation test confirmed growth hormone deficiency. She was treated with long-acting growth hormone (0.2 mg/Kg/week) for 2 years and 9 months, leading to a significant increase in height, with an average annual growth rate of 9.4 cm, without any side effects after three years of follow-up. Goltz syndrome with short stature may be associated with growth hormone deficiency, and long-term growth hormone therapy can achieve clinical benefit.