Dipartimento Pediatrico Universitario Ospedaliero, IRCCS "Bambino Gesù" Children's Hospital, Rome, Italy.
Department of Systems Medicine, Tor Vergata University, Rome, Italy.
Mol Genet Genomic Med. 2021 May;9(5):e1644. doi: 10.1002/mgg3.1644. Epub 2021 Mar 31.
Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific genetic analysis, laboratory tests or radiological exams are available to confirm the diagnosis which is still based on clinical and facial features. Although short stature is a major feature of the syndrome, no endocrine alterations have been reported so far and scant data are available about the efficacy and safety of GH treatment in these patients.
A 13-year-old male patient was referred to our attention for short stature. Endocrinological evaluation including GH axis, adrenal and gonadal functions were assessed. aCGH was performed.
14q terminal microdeletion associated with Dubowitz phenotype was found. Endocrinological investigations revealed the presence of hypopituitarism which showed a satisfactory response to short-term growth hormone therapy. The subject also started glucocorticoid replacement therapy. Disorders in pubertal progression and gonadal function were noted.
Dubowitz syndrome (DS) includes different clinical findings variably occurring. Subjects with a Dubowitz phenotype should be carefully monitored for endocrinological anomalies. The prompt recognition of potential life-threatening endocrinological condition for example adrenal insufficiency is mandatory in order to start an adequate and early treatment.
杜博维茨综合征（DS）是一种复杂且罕见的疾病，其特征为出生后生长迟缓、小头畸形、身材矮小、轻度发育迟缓、面部畸形、皮疹和骨髓衰竭。尽管迄今为止已经描述了大约 200 例病例，但尚无明确的遗传分析、实验室检查或影像学检查可用于确诊，目前仍主要基于临床和面部特征进行诊断。尽管身材矮小是该综合征的主要特征，但迄今为止尚未报道内分泌改变，且关于这些患者使用生长激素（GH）治疗的疗效和安全性的数据也很少。
一名 13 岁男性患者因身材矮小而就诊。对其进行了包括 GH 轴、肾上腺和性腺功能在内的内分泌评估，还进行了 aCGH 检测。
发现与杜博维茨表型相关的 14q 末端微缺失。内分泌学检查显示存在垂体功能减退症，对短期 GH 治疗有满意的反应。该患者还开始接受糖皮质激素替代治疗。注意到青春期进展和性腺功能障碍。
杜博维茨综合征（DS）包括不同的临床发现，其发生情况各不相同。具有杜博维茨表型的患者应密切监测内分泌异常。必须及时识别潜在的危及生命的内分泌疾病，如肾上腺功能不全，以便开始适当和早期的治疗。
