An infant case of hyperprolactinemia induced by a functional disorder of the hypothalamus [0.03%]
垂体功能亢进所致的婴儿高催乳素血症一例报告
Toshihide Kubo,Mahoko Furujo
Toshihide Kubo
Although functional hyperprolactinemia originating in the hypothalamus has been observed, there have so far been few reports of this condition occurring in children. This report describes a 1-yr-and-4-mo old boy with hyperprolactinemia due ...
A case of persistent hyperinsulinemic hypoglycemia of infancy successfully managed with subcutaneous octreotide injection and nocturnal intravenous glucose supply [0.03%]
儿童持续性婴儿高胰岛素血症性低血糖症成功采用长效奥曲肽皮下注射和夜间静脉补糖治疗病例报告
Mari Murakami,Sotaro Mushiake,Hiroko Kashiwagi et al.
Mari Murakami et al.
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is often resistant to medical therapy and is normally treated by subtotal pancreatectomy to avoid neurological complications. However, many problems after surgery, such as recurrenc...
Different skeletal phenotypes in a mother and two daughters with short stature homeobox-containing haploinsufficiency [0.03%]
短身材Homeobox含少量不足的母女三人不同的骨骼表型
Keisuke Nagasaki,Toru Kikuchi,Makoto Uchiyama
Keisuke Nagasaki
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features such as short metacarpals, cubitus valgus, and Madelung deformity. We report the clinical findings of a Japanese family consisting of tw...
Noriyuki Katsumata
Noriyuki Katsumata
Cholesterol side-chain cleavage enzyme (SCC) catalyzes the conversion of cholesterol to pregnenolone, the first step in the biosynthesis of all steroid hormones. It was once postulated that SCC deficiency would be lethal, but recent studies...
A novel mutation of androgen receptor gene in complete androgen insensitivity syndrome [0.03%]
完全型雄激素不敏感综合征的新型基因突变研究
Satoshi Narumi,Naoko Amano,Rumi Hachiya et al.
Satoshi Narumi et al.
Recent change in the annual incidence of childhood type 2 diabetes in the Tokyo metropolitan area [0.03%]
东京都市圈儿童2型糖尿病年发病率的变化
Tatsuhiko Urakami,Shigeo Morimoto,Yoshikazu Nitadori et al.
Tatsuhiko Urakami et al.
This study evaluated recent changes in the annual incidence of childhood type 2 diabetes in the Tokyo metropolitan area. From 1974 to 2004, a total of 236 students were diagnosed as having type 2 diabetes by the urine glucose screening prog...
Pregnanetriol in the Range of 1.2-2.1 mg/m(2)/day as an Index of Optimal Control in CYP21A2 Deficiency [0.03%]
CYP21A2缺陷症患儿1.2~2.1mg/m2/d孕三醇水平反映疾病代偿稳定区间的一项指标研究
Masako Izawa,Keiko Aso,Asako Higuchi et al.
Masako Izawa et al.
Auxological data is the gold standard index of the therapeutic condition in CYP21A2 deficiency over a long-range period, whereas urinary pregnanetriol for 24 h (PT) is variable for a shorter-range period. Ideal PT levels in comparison with ...
Masahiro Goto
Masahiro Goto
Investigation of early human fetal tissue has helped us elucidate the onset of the activation of the pituitary-adrenal axis during human development. Adrenal steroidogenesis and ACTH secretion from the pituitary starts at 7-8 weeks postconc...
Characteristic Height Growth Pattern in Patients with Pseudohypoparathyroidism: Comparison between Type 1a and Type 1b [0.03%]
假性低血钙症患者的特点身高增长模式：1A型与1B型的比较
Kaori Kinoshita,Masanori Minagawa,Michiko Anzai et al.
Kaori Kinoshita et al.
Pseudohypoparathyroidism (PHP) is a metabolic disorder characterized by organ resistance to the action of parathyroid hormone. PHP type 1 is subclassified into two apparent disorders, type 1a (PHP1a) and type 1b (PHP1b). Patients with PHP1a...
Longitudinal growth of the short bones of the hand in a girl with pseudohypoparathyroidism type ia [0.03%]
I型假性甲状旁腺功能减退症女童手部短骨纵向生长规律
Keisuke Nagasaki,Tadashi Asami,Toru Kikuchi et al.
Keisuke Nagasaki et al.
Brachydactyly is a common feature of pseudohypoparathyroidism (PHP) type Ia. We studied the longitudinal growth of the short bones in the hand of a 15-yr-old girl with PHP type Ia who had been followed for congenital hypothyroidism. Radiogr...