Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion.

Unlabelled: The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.

CD56-positive (nasal-type T/NK cell) lymphoma arising on the skin. Report of two cases and review of the literature.

Several authors have reported cases of patients with malignant lymphoma with unique characteristics, designated nasal-type T/NK cell lymphoma, which expresses the natural killer (NK) cell marker and shows frequent extra-nodal involvement and poor prognosis. We report 2 cases of this type of lymphoma which were CD56-positive and showed a histopathologically angiocentric pattern with cutaneous and subcutaneous tumorous lesions. Patient 1 had extensive invasion of skin, underlying skeletal muscle, spleen and bone marrow, and died of sepsis 34 months after onset.

Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH in which the synthesis of all gonadal and adrenal cortical steroids is markedly impaired. We report here the clinical, endocrinological, and molecular analyses of two unrelated Japanese kindreds of 46,XX subjects affected with lipoid CAH who manifested spontaneous puberty. Phenotypic female infants with 46,XX karyotypes were diagnosed with lipoid CAH as newborns based on a clinical history of failure to thrive, hyperpigmentation, hyponatremia, hyperkalemia, and low basal values of serum cortisol and urinary 17-hydroxycorticosteroid and 17-ketosteroid.

A variant of Plasmodium ovale; analysis of its 18S ribosomal RNA gene sequence.

We report here a new variant of human malaria parasite found by comparison of diagnostic results obtained from a new DNA diagnostic method named microtiter plate-hybridization (MPH) and traditional microscopic method. Total five cases of malaria were diagnosed as microscopy-positive but MPH-negative; one case was found in epidemiological research in Vietnam and four cases were obtained from imported malaria in Japan. Although they were quite similar to typical P.

A boy with psychosocial short stature followed up from infancy to adulthood.

A boy with psychosocial short stature who has been followed up from the age of 11 months to adulthood is described. The boy was the product of an unwanted pregnancy. The emaciated short boy gained weight and height markedly during a short-term stay at hospital, but lost weight and experienced minimal height gain at home.

Long-term effects of growth hormone treatment on height in Turner syndrome: results of a 6-year multicentre study in Japan. Committee for the Treatment of Turner Syndrome.

Patients with Turner syndrome have many somatic characteristics, including short stature. We report the results of a 6-year multicentre clinical trial of recombinant human growth hormone (GH) therapy in 63 patients with Turner syndrome. Twenty-six patients received GH at a dose of 0.

[Serum levels of intact molecular osteocalcin in children with growth hormone (GH) deficiency during GH therapy: an early predictor of GH therapy].

Recently we developed a sandwich enzyme immunoassay (EIA) specific for intact molecular osteocalcin (I-OC), produced only by osteoblast cell and partially released into blood circulation, to establish a specific biochemical marker of bone formation. In order to confirm whether serum I-OC levels constitute a specific marker for bone formation and to assess the relationship between serum I-OC levels and growth response to growth hormone (GH) therapy, we measured the serum I-OC in serial serum samples using this EIA from 61 children with GH deficiency who showed significant bone growth during GH therapy. The serum I-OC levels in children with GH deficiency before GH therapy were slightly lower than those in normal children (Kanzaki S.

Testicular juvenile granulosa cell tumor in an infant with X/XY mosaicism clinically diagnosed as true hermaphroditism.

We report a testicular juvenile granulosa cell tumor (T-JGCT) with characteristic clinical and histopathological features. The tumor was present in the left abdominal testis of a 7-month-old infant with a 45,X/46,XY karyotype and ambiguous genitalia. Preoperatively, the infant was diagnosed as having functional testicular and ovarian elements based on elevated levels of serum testosterone and estradiol following human chorionic gonadotropin and human menopausal gonadotropin administration, respectively.

The long-term effect of cyproterone acetate on growth in girls with idiopathic precocious puberty. Androcur Study Group in Japan.

To define the effect of cyproterone acetate (CPA) on statural growth, 25 girls with idiopathic precocious puberty who had been treated with CPA were studied retrospectively. The final height SDS was -1.12 +/- 1.

Growth hormone treatment in Turner syndrome: results of a multicentre study in Japan. The Committee for the Treatment of Turner Syndrome.

Patients with Turner syndrome were treated with recombinant human growth hormone (GH) for 3 years. Sixty-eight patients received GH, 0.5 IU/kg/week, while 93 received GH, 1.

Standards for growth and growth velocity in Turner's syndrome.

Turner-specific natural growth and growth velocity curves based on the retrospectively surveyed growth data of 704 Japanese patients in a mixed cross-sectional and longitudinal mode are reported. There was no significant difference in growth between the patients with karyotype 45,X and non-45,X. Twenty-three patients had a history of genital bleeding between the ages of 11 and 14 years (12 years +/- 9 months).

A dose finding study of a super long-acting luteinizing hormone-releasing hormone analog (leuprolide acetate depot, TAP-144-SR) in the treatment of central precocious puberty. The TAP-144-SR CPP Study Group.

The effect of leuprolide acetate (D-Leu6-[des-Gly10-NH2]-LH-RH ethylamide acetate) for depot suspension (TAP-144-SR), a synthetic analog of luteinizing hormone-releasing hormone, was examined in three doses in 36 patients (34 girls, 2 boys) with central precocious puberty. TAP-144-SR was injected subcutaneously every four weeks for twelve weeks, and clinical symptoms and plasma and urinary levels of various hormones were followed every four weeks. Eleven girls given 10 micrograms/kg showed a significant decrease in peak plasma LH and FSH responses to LH-RH test, but basal plasma LH and FSH did not change significantly.

DNA analysis of a patient with two different marker chromosomes using Y-specific DNA probes.

A female patient with unilateral gonadal dysgenesis was a mosaic for three cell lines, 45,X/46,X, + marI/46,X, + marII, including two different marker chromosomes. DNA analysis using 17 Y-specific DNA probes revealed that each marker consists of different segments of the Y chromosome.

Monthly urinary LH and FSH secretory patterns in normal children and patients with sexual disorders.

Urinary gonadotropin concentrations were determined by polyclonal double antibody RIA after ammonium sulfate extraction. Good correlation was observed between urinary gonadotropin/creatinine ratios in first morning voided and full 24-h urine collections. Using consecutive 30-d first morning voided urine specimens from normal children and from patients with sexual disorders, we have studied the monthly patterns of nighttime gonadotropin secretion.

Quantitation of urinary gonadotropins in normal children.

A simple and improved method for the quantification of urinary LH and FSH was developed. Urinary gonadotropin concentrations were determined by polyclonal double antibody RIA after ammonium sulfate extraction. Urinary LH and FSH concentrated by ammonium sulfate were coeluted with an iodinated LH and FSH tracer.

Isolated human growth hormone deficiency due to the hGH-I gene deletion with (type IA) and without (the Israeli-type) hGH antibody formation during hGH therapy.

Three Japanese patients with isolated growth hormone deficiency from two different families were shown to be homozygous for deletion of the structural gene for human growth hormone (hGH-I gene). These three patients had the same restriction fragment length polymorphism haplotypes. In patient No.

Serum insulin-like growth factor I (somatomedin-C) level in normal subjects from infancy to adulthood, pituitary dwarfs and normal variant short children.

Serum levels of IGF-I were radioimmunoassayed after acid ethanol extraction in 1075 normal subjects from infants through young adults, and the normal range for each age was established. The mean value for infants which was relatively low increased gradually with age, and rose sharply after that reaching the peak levels at mid adolescence, then it decreased slowly to the young adult levels. Significantly higher mean values were observed in females at the age of 9, 10, 11 and 12 years.

Hunter's syndrome. An ultrastructural study of an autopsy case.

An autopsy case of a 10-year, 8-month-old boy with Hunter's syndrome is reported with emphasis on the ultrastructural findings of almost all the organs, except the brain. Intracytoplasmic inclusion bodies were observed in various organs as follows: nerve cells and glia in the spinal cord, hepatocytes and Kupffer cells in the liver, sinusoidal endothelium of the spleen, proximal tubules, podocytes and epithelium of Bowman's capsule of the kidney, interstitial fibroblast-like cells among cardiac muscle bundles, cardiac valves and aorta, exocrine and endocrine cells of the pancreas, adrenocortical cells, follicular epithelial cells of the thyroid. Leydig cells of the testis, chondrocytes, fibroblasts and endothelium of capillaries throughout the body.

Cross-sectional growth study in patients with Turner's syndrome.

The body height, weight and growth velocity were investigated in 416 patients with Turner's syndrome whose age ranged from 3 to 17 years. They were all prepubertal at the time of the present study. The chromosomal analysis revealed 45, X monosomy in 148 cases, mosaicism in 208 cases, and nonmosaic structural abnormalities of X chromosome in 60 cases.

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

The need for a reliable screening test for classical congenital adrenal hyperplasia prompted development of newborn screening programs. Worldwide incidence of classical congenital adrenal hyperplasia in this report was taken from newborn screening programs in France, Italy, Japan, New Zealand, Scotland, and the United States. Two populations in which the occurrence of congenital adrenal hyperplasia among live births has been reported with greater than usual frequency are the Yupik Eskimos of southwestern Alaska (1:282) and the people of La Reunion, France (1:2,141).

Immunoreactive somatomedin C/insulin-like growth factor I in urine from normal subjects, pituitary dwarfs, and acromegalics.

Using antibodies to somatomedin C/insulin-like growth factor I (SmC) produced in rabbits using the recombinant hormone, we have developed a radioimmunoassay for SmC. Gel-chromatography of urine revealed that the vast majority of immunoreactive SmC was eluted coincident with 125I-SmC and a small portion eluted with fractions having a mol. wt.