以色列-阿拉伯裔家族中的伍德豪斯-萨卡蒂综合征，表现为青少年起病的糖尿病和青春期延迟。
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.
机构信息
Pediatric Endocrinology, Assaf Harofeh Medical Center, Zerifin, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
出版信息
Horm Res Paediatr. 2011;75(5):362-6. doi: 10.1159/000323441. Epub 2011 Feb 8.
BACKGROUND AND OBJECTIVE
Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics of the extended family of a 16-year-old female who presented with new-onset DM and had delayed puberty on physical examination.
METHODS
The primary physician's medical charts of 9 members of the proband's consanguineous Israeli-Arab family were reviewed. Hormonal, metabolic and antibody profile, imaging studies and molecular analysis were performed in 4 phenotypically compatible members, including the proband.
RESULTS
Four subjects, 2 females and 2 males, had DM, absent pubertal development and similar appearance. None had extrapyramidal signs. The patients were homozygous for a one-base deletion mutation (c.436delC) in the C2orf37 gene.
CONCLUSION
We describe the first Israeli-Arab family with phenotype and genotype of WSS, imitating autoimmune DM with gonadal failure.
背景与目的
伍德豪斯-萨卡蒂综合征（WSS）是一种罕见的常染色体隐性遗传疾病，其特征是性腺功能减退、脱发、糖尿病（DM）、智力障碍和锥体外系体征的组合，此前在以色列尚未描述过。我们的目的是研究一名 16 岁女性的扩展家族的临床和遗传特征，该女性表现为新发 DM，并在体格检查时出现青春期延迟。
方法
回顾了先证者同血缘的 9 名以色列-阿拉伯家族成员的初级医生的病历。对 4 名表型相符的成员（包括先证者）进行了激素、代谢和抗体谱、影像学研究和分子分析。
结果
4 名受试者，2 名女性和 2 名男性，患有 DM、青春期发育不良和相似的外貌。均无锥体外系体征。患者均为 C2orf37 基因的一个碱基缺失突变（c.436delC）的纯合子。
结论
我们描述了第一个具有 WSS 表型和基因型的以色列-阿拉伯家族，模仿伴有性腺功能衰竭的自身免疫性 DM。
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