Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
ISSN-L : 0918-5739
1 巻, 2 号
選択された号の論文の6件中1~6を表示しています
  • Seigo Ono, Duane C. Eichler, Stephen J. Usala, Barry B. Bercu
    1992 年 1 巻 2 号 p. 73-76
    発行日: 1992年
    公開日: 2010/11/18
    ジャーナル フリー
    This study represents the first measurements of T3 binding to nuclear receptors in fibroblasts from a homozygous child with a dominant negative thyroid hormone receptor gene. Previously demonstrated in this child and kindred was a three base pair deletion in the c-erbAβ thyroid hormone receptor gene resulting in the loss of threonine codon 332. In this study using cultured skin fibroblasts from this homozygous child and his heterozygous father there was normal binding affinity and a two-fold less binding capacity in comparison to control fibroblasts. These data are consistent with loss of β-receptor T3-binding activity, but the presence of normally functioning α-receptors in vivo.
  • Osamu Arisaka, Hajime Arai, Naoto Shimura, Atsuto Hosaka, Yuko Nakayam ...
    1992 年 1 巻 2 号 p. 77-81
    発行日: 1992年
    公開日: 2010/11/18
    ジャーナル フリー
    We report the case of a 23-year-old man who presented with late-appearing intracerebral calcification during the course of central diabetes insipidus. He had been diagnosed as having ectopic pinealoma and had received brain irradiation at the age of 11 years. Bilateral calcifications of the basal ganglia and thalamus appeared 8 years after the development of diabetes insipidus. Thereafter, the calcified lesions increased in extent on follow-up computed tomograms. Though the influence of cranial irradiation was not ruled out, the lack of evidence for any underlying metabolic defect suggested that persistent hypernatremia (hyperosmolar dehydration) due to insufficiently treated diabetes insipidus was the most probable cause of the intracerebral lesions. This has been described in previous cases of nephrogenic diabetes insipidus associated with intracerebral calcification.
  • Sayuri Matsumoto, Keiichi Ozono, Kanji Yamaoka, Katsusuke Yamamoto, Sh ...
    1992 年 1 巻 2 号 p. 83-89
    発行日: 1992年
    公開日: 2010/11/18
    ジャーナル フリー
    Vitamin D dependency type I is a disease characterized by hypocalcemia and rickets in early infancy. We report the case of a female patient diagnosed as having vitamin D dependency type I by the clinical features and the PTH loading test after a low calcium diet. The patient was referred to Osaka University Hospital when she was 2 years 2 months old. She had slight bowing of the legs but no hypocalcemia. Her serum concentrations of 25-hydroxyvitamin D (25OHD) and 1, 25 (OH) 2D were 18.1 ng/ml and 14 pg/ml, respectively. After 3 days on a low calcium diet, the PTH loading test was performed. Neither the low calcium diet nor the injection of PTH increased serum 1, 25 (OH) 2D levels, while serum 1, 25 (OH) 2D levels were significantly increased in normal controls. When active vitamin D metabolites were not administered, serum alkaline phosphatase (ALP) and PTH increased gradually to 1090 U/1 and 1120 pg/ml, respectively. After administration of a physiological dose (0.08μg/kg/day) of 1α-hydroxyvitamin D3 (1αOHD3), the serum ALP and PTH levels returned to normal.
    The blunted response of serum 1, 25 (OH) 2D concentration to the PTH loading test as well as to the low calcium diet, and the necessity for a physiological dose of 1αOHD3, suggest that she had a partial defect in renal 25OHD3-1α-hydroxylase activity.
  • Masatoshi Fujimoto, Kenji Ohyama, Toshitsugu Yamori, Takaya Nakane, To ...
    1992 年 1 巻 2 号 p. 91-94
    発行日: 1992年
    公開日: 2010/11/18
    ジャーナル フリー
    We report the cases of two infants with ambiguous genitalia who were found to have partial androgen insensitivity syndrome by androgen receptor studies conducted on cells obtained from a genital skin biopsy. Both patients had been born at full term and appeared normal except for their external genitalia. One patient had a hooded phallus and scrotal hypospadias. The testes were found in the inguinal canals. The genitalia of the other patient appeared to be female, but testes were found in the labia majora. At genitography, the urogenital sinus was observed to be short and the vaginal cavity of normal size. The serum testosterone level of the first patient was significantly elevated. Androgen receptors were measured in skin with fibroblasts cultured from the prepuce. The maximum binding capacity of the dihydrotestosterone receptor for each patient was 263 and 340 fmol/mg DNA, respectively (normal mean±SD, 722±225 fmol/mg DNA). The dihydrotestosterone binding affinity of the receptor was significantly lower than normal, (Kd: mean±SD, 0.71±0.17 nM), i. e., 1.14 nM in the first patient and 1.26 nM in the other. These findings raise the question of the mechanism of the different degrees of masculinization of the external genitalia with a similar abnormality in the androgen receptor.
  • Yoshiya Ito, Koh-ichi Yano, Ryou Mitamura, Ryuji Oka, Akimasa Okuno, N ...
    1992 年 1 巻 2 号 p. 95-100
    発行日: 1992年
    公開日: 2010/11/18
    ジャーナル フリー
    Familial testotoxicosis is a gonadotropin-independent autosomal dominant condition in which precocious puberty occurs, only in males. We present the cases of four Japanese boys with precocious sexual development aged 3 to 4 years, who showed pubertal serum testosterone levels, but with low basal serum gonadotropin levels and a minimal response of gonadotropins to luteinizing hormone releasing hormone. They showed symmetric testicular enlargement, premature Leydig cell maturation and spermatogenesis. There was no evidence of familial sexual precocity in three generations. These findings are consistent with familial testotoxicosis except for the negative family history. In a nationwide survey for precocious puberty in Japan, there were no familial cases of male-limited sexual precocity. It appears that this disease is limited to sporadic cases and is very rare in Japan.
  • Toshiaki Tanaka, Itsuro Hibi
    1992 年 1 巻 2 号 p. 101-107
    発行日: 1992年
    公開日: 2010/11/18
    ジャーナル フリー
    Bone age maturation was analyzed longitudinally by the TW2 RUS method in 45 GH-treated boys with idiopathic GH deficiency. Patients were divided into three groups: Group I consisted of 4 patients who underwent spontaneous puberty without gonadal suppression treatment (GST) and had a mean final height of 151.9 cm, Group II consisted of 17 patients with associated gonadotropin deficiency who had a mean final height of 165.3 cm, and Group III consisted of 24 patients who underwent spontaneous puberty and had a mean final height of 158.3 cm after being treated with combined gonadal suppression agents.
    The mean δbone age (BA) /δ chronological age (CA) ratios during GH treatment in the three groups were 1.70, 0.89, and 1.10, respectively. Final height correlated negatively with δBA/δCA ratio. The fact that bone maturation stopped at around 14 years in Group II without gonadal replacement suggests that sex steroids are necessary for further bone maturation. Gonadal suppression significantly delayed the rate of bone maturation, which resulted in a greater final height in Group III.
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