Ehara Hiroaki, Utsunomiya Yasushi, Ieshima Atsushi, Maegaki Yoshihiro, Nishimura Gen, Takeshita Kenzo, Ohno Kousaku
Department of Early Childhood Education and Care, Kurashiki City College, Japan.
Am J Med Genet A. 2007 May 1;143A(9):973-8. doi: 10.1002/ajmg.a.31626.
We describe a Japanese brother and sister with Martsolf syndrome. They had short stature, severe mental retardation, cataract, hypogonadism, craniofacial dysmorphism, and bone and joint symptoms including scoliosis, lax finger joints, and talipes valgus. Previously undescribed findings included proximal femoral epiphyseal dysplasia reminiscent of Legg-Calve-Perthes disease in both patients, and Klippel-Feil malformation and osteopathia striata in one patient. Brain MRI showed mild frontal and temporal lobe atrophy, and mild ventricular enlargement. Severe GH deficiency was demonstrated after insulin tolerance and glucagon/propranolol tolerance tests. No responses to serum LH and FSH after a gonadotropin-releasing hormone (GnRH) test suggested secondary hypogonadism, that is, hypogonadotropic hypogonadism, due to hypothalamus-pituitary axis insufficiency in both patients.
我们描述了一对患有马尔索夫综合征的日本兄妹。他们身材矮小、严重智力发育迟缓、患有白内障、性腺功能减退、颅面畸形，以及包括脊柱侧弯、手指关节松弛和外翻足在内的骨骼和关节症状。此前未被描述的发现包括，两名患者均存在类似Legg-Calve-Perthes病的近端股骨骨骺发育异常，一名患者存在Klippel-Feil畸形和线条状骨病。脑部磁共振成像（MRI）显示轻度额叶和颞叶萎缩以及轻度脑室扩大。胰岛素耐量试验和胰高血糖素/普萘洛尔耐量试验后证实存在严重生长激素缺乏。促性腺激素释放激素（GnRH）试验后，血清促黄体生成素（LH）和促卵泡生成素（FSH）均无反应，提示两名患者均因下丘脑-垂体轴功能不全导致继发性性腺功能减退，即低促性腺激素性性腺功能减退。
