Short stature and turner skeletal features in an 11-year-old boy with a ring y chromosome missing the short stature homeobox containing gene [0.03%]
11岁含有缺失矮小.homeobox.基因的Y染色体环状体患者的身材短小和特纳综合征样骨骼畸形
Masayuki Tanaka,Yoshikazu Ohmizono
Masayuki Tanaka
We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring ...
Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes [0.03%]
同卵双胞胎不同表型的假性低甲状旁腺素血症Ia型两例
Keisuke Nagasaki,Yutaka Shimomura,Takayuki Suyama et al.
Keisuke Nagasaki et al.
Pseudohypoparathyroidism (PHP) type Ia is characterized by hypocalcemia due to PTH resistance and by features of Albright's hereditary osteodystrophy, including short stature, obesity, subcutaneous calcification and brachydactyly. A wide va...
Shingo Okamoto,Yukari Morimoto,Mohammad Selim Reza et al.
Shingo Okamoto et al.
We report the case of a 21-yr-old female with Turner syndrome associated with cerebral hemorrhage (CH). She was transferred to our hospital for loss of consciousness and was diagnosed with right putaminal hemorrhage. Following surgical remo...
A novel mutation of the arginine vasopressin receptor 2 gene in a patient with congenital nephrogenic diabetes insipidus [0.03%]
血管加压素受体2基因的新突变在先天性肾源性尿崩症中的研究
Asako Tajima,Ichiro Miyata,Akira Katayama et al.
Asako Tajima et al.
We have identified a novel mutation of the arginine vasopressin receptor 2 (AVPR2) gene in a case of congenital X-linked nephrogenic diabetes insipidus (NDI). The patient was a 2-mo-old Japanese boy with persistent fever and failure to thri...
Bilateral asynchronous adrenocortical adenoma in a girl with beckwith-wiedemann syndrome [0.03%]
贝克威思-威德曼综合征伴双侧异步肾上腺皮质瘤的一个病例研究
Michiyo Mizota,Izumi Tamada,Kazuko Hizukuri et al.
Michiyo Mizota et al.
We report a case of asynchronous occurrence of bilateral adrenocortical adenoma in a 13-yr-old girl with Beckwith-Wiedemann syndrome. A right virilizing adrenal adenoma was surgically removed at age 6, following clinical manifestation of vi...
Absence of Heterozygous K83E and R257X Mutations of the AIRE-1 Gene in 46 Children with Type 1 Diabetes and 44 Children with Graves' Disease [0.03%]
AIRE-1基因K83E和R257X杂合突变与1型糖尿病及Graves病的关系研究
Saika Iwama,Ayako Ikezaki,Hisafumi Matsuoka et al.
Saika Iwama et al.
Type 1 diabetes mellitus (DM) and Graves' disease are autoimmune diseases, and a number of genetic factors, including HLA and CTLA-4 genes, have been reported to contribute to their etiology. The gene responsible for autoimmune polyendocrin...
Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency [0.03%]
Leri-Weill软骨发育不全症伴SHOX基因单倍体不足的纵向观察研究
Yoko Miyoshi,Kazunori Miki,Yuri Etani et al.
Yoko Miyoshi et al.
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features, a certain proportion of idiopathic short stature and Leri-Weill dyschondrosteosis (LWD). Here we report a Japanese female with LWD. Her...
Tatsuhiko Urakami
Tatsuhiko Urakami
Urine glucose screening at school implemented in Japan is useful for detecting childhood type 2 diabetes at the early stage of the disease. Most patients detected by the screening can improve hyperglycemia and reduce overweight within one t...
Effect of testosterone on bone mineral gain: observations of male patients with growth hormone deficiency and normal gonadotropin secretion [0.03%]
睾丸激素对骨矿增加的影响：生长激素缺乏但正常促性腺激素分泌的男性的观察结果
Sanae Kanazawa,Megumi Kojima,Satomi Koyama et al.
Sanae Kanazawa et al.
Serum Levels of Free Insulin-Like Growth Factor (IGF)-I in Normal Children [0.03%]
正常儿童游离胰岛素样生长因子-I的血清水平测定
Atsuko Nimura,Noriyuki Katsumata,Toshiaki Tanaka
Atsuko Nimura
Serum levels of free insulin-like growth factor (IGF)-I were measured by immunoradiometric assay (IRMA) in fasting sera of 137 normal boys and 120 normal girls aged from 8 to 15 yr to study relationships between free IGF-I levels and ages, ...