Tüysüz Beyhan, Yılmaz Saliha, Gül Ece, Kolb Luis, Bilguvar Kaya, Evliyaoğlu Olcay, Günel Murat
Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.
Am J Med Genet A. 2013 Jun;161A(6):1300-8. doi: 10.1002/ajmg.a.35906. Epub 2013 Apr 30.
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type, is a skeletal dysplasia characterized by platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature, and short and bowed legs, and is caused by mutations in PAPSS2. In a single Turkish patient also hyperandrogenism was reported. We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p.R329X) leading to a stop codon in PAPSS2. Plasma levels of dehydroepiandrosterone (DHEA) and androstenedione were normal, but DHEA sulfate levels were low in four of the patients. Two patients and a mother had history of pubertal hyperandrogenism. Testosterone level was mildly elevated in one of the female patients, and insulin resistance was not detected in any of the patients. The patients also had precocious costal calcification, small iliac bones, short femoral necks, coxa vara, short halluces and fused vertebral bodies, none of which has been reported previously in this entity.
巴基斯坦型脊椎骨骺发育不良（SEMD）是一种骨骼发育不良，其特征为椎体扁平、骨骺骨化延迟、轻度干骺端异常、身材矮小、腿部短且弯曲，由PAPSS2基因突变引起。在一名土耳其患者中还报告有高雄激素血症。我们描述了一个土耳其家族的5例巴基斯坦型SEMD患者，他们对于导致PAPSS2中出现终止密码子的无义突变（p.R329X）呈纯合状态。脱氢表雄酮（DHEA）和雄烯二酮的血浆水平正常，但4例患者的硫酸脱氢表雄酮水平较低。2例患者和1名母亲有青春期高雄激素血症病史。1例女性患者的睾酮水平轻度升高，所有患者均未检测到胰岛素抵抗。这些患者还存在肋早熟钙化、髂骨小、股骨颈短、髋内翻、拇趾短和椎体融合，此前在该疾病中均未报告过这些情况。
