歌舞伎症候群合併生長激素缺乏及性早熟

Kabuki Syndrome with Growth Hormone Deficiency and Precocious Puberty: a case report

研究背景和目的：歌舞伎症候群是一種罕見的疾病，伴隨著多種合併症，目前病因不明，被認為與特定的基因缺陷有關。近年來生長激素、促黃體激素釋放激素（LHRH）類似物和鋅製劑被認為對於此類患者的生長激素缺乏及性早熟有相當的療效。本文描述一位患有歌舞伎症候群合併生長激素缺乏及性早熟的女性病患。研究方法：本文描述患者的病史、身體檢查、手部X 光檢查、骨密度、骨盆超音波、生長激素激發試驗、LHRH 激發試驗、以及血液檢查結果。研究結果：這名年輕女性患者被診斷出患有歌舞伎症候群合併生長激素缺乏和中樞性性早熟，高解析度染色體檢查發現KMT2D/MLL2 基因突變，以生長激素、促黃體激素釋放激素（LHRH）類似物和鋅補充劑治療後身高和骨密度都有增加，後續追蹤並未發現治療相關的副作用。結論：歌舞伎症候群的患者可能會出現多種不同的症狀及併發症。適當的治療，如生長激素療法，LHRH 類似物和礦物質補充劑可以有效改善患者的身高及治療性早熟。

 

Kabuki syndrome (KS) is a rare disease with unknown etiology, variable signs, and symptoms. Genetic defects related to KS such as mutations in the Histone-lysine N-methyltransferase 2D (KMT2D/MLL2) gene have been discussed over the years. Treatment with growth hormone, luteinizing hormone-releasing hormone (LHRH) analog, and zinc supplementation have shown positive effects on the patient’s height and in the management of the precocious puberty. Here, we present a case of an 11-year-old female diagnosed with KS. She had a KMT2D/MLL2 mutation, which manifested as growth hormone deficiency and precocious puberty. Her clinical symptoms improved following treatment with growth hormone, LHRH analog, and zinc supplementation. This case report underscores the importance of early intervention and proper management of the disease.