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Biomedical subjects

D Aarskog

Publications and source records attributed to D Aarskog.

At least 37 records · Page 2Linked to original sources
PubMed1990

[Survey of growth retardation in children].

Following investigation of 172 children submitted for retarded growth, 34 children obtained a specific diagnosis. 11 of these children had growth hormone deficiency and five had coeliac disease. The remaining 138 children either had genetically determined short stature or their growth and adolescence was constitutionally delayed. 27 prepubertal children received treatment with anabolic steroids, and 17 children were treated with growth hormone. We present a practical approach for the investigation of retarded growth.

Adolescent↗
PubMed1989

Serum levels of vitamin D metabolites in the elderly.

The serum concentrations of 25-dihydroxyvitamin D, 1,25-dihydroxyvitamin D, 24,25-dihydroxyvitamin D, vitamin D-binding protein, PTH and calcitonin were measured in three groups of elderly Norwegian subjects (age 70-96 years): active elderly living at home, warded geriatric patients not supplemented with vitamin D, and warded geriatric patients supplemented with a daily dose of 400 IU vitamin D2. The results were compared with the concentrations of vitamin D metabolites found in a group of young and middle-aged adults (age 22-59 years). Decreased serum concentrations of 25-dihydroxyvitamin D3 were found in all groups of elderly compared with younger adults. Active elderly living at home had higher concentrations of 25-dihydroxyvitamin D3 than geriatric ward patients. Supplementation of geriatric ward patients with 400 IU vitamin D2 resulted in an increase in the median serum 25-dihydroxyvitamin D concentration by about 30 nmol/l. Decreased median concentration of 1,25-dihydroxyvitamin D was found in geriatric ward patients not supplemented with vitamin D, indicating that this group is at risk of vitamin D deficiency. The active elderly living at home and the warded geriatric patients receiving vitamin D supplementation had normal median concentrations of 1,25-dihydroxyvitamin D, indicating that nephrogenous synthesis of 1,25-dihydroxyvitamin D is not generally impaired in the elderly, and that a moderate vitamin D supplementation may correct low 1,25-dihydroxyvitamin D levels, owing to vitamin D deficiency. However, the serum concentrations of 1,25-dihydroxyvitamin D showed great individual variations. No significant differences were observed for vitamin D-binding protein, 'free-1,25-dihydroxyvitamin D, or PTH between the groups.(ABSTRACT TRUNCATED AT 250 WORDS)

24,25-Dihydroxyvitamin D 3↗
PubMed1988

1,25-Dihydroxyvitamin D3 receptor measurement in primary renal cell carcinomas and autologous normal kidney tissue.

Recently it was reported that 1-alpha,25-dihydroxyvitamin D3 [1,25-(OH)2D3] inhibited cell growth in a cell line derived from a metastasis from renal cell carcinoma. We have examined samples from 23 primary renal cell carcinomas for 1,25-(OH)2D3 receptor content, and compared it with the concentrations in autologous normal kidney tissue. Nineteen of 23 (83%) renal cell carcinomas had detectable (above 1 fmol/mg protein) 1,25-(OH)2D3 receptor levels, and 15 of 23 (65%) had levels above 5 fmol/mg protein. Mean value for the renal cell carcinomas was 8.2 fmol/mg protein (range, 0-28 fmol/mg protein), and the mean value for autologous normal kidney tissue was 23.1 fmol/mg protein (range, 6.6-53.7 fmol/mg protein). The 1,25-(OH)2D3 receptor levels in the renal cell carcinomas were significantly lower than in the autologous normal kidney tissue (P less than 0.001). The 1,25-(OH)2D3 receptor was characterized by sucrose gradient analysis and DNA-cellulose chromatography. The features found for renal cell carcinoma were similar to the 1,25-(OH)2D3 receptor in normal human tissue. No correlation of 1,25-(OH)2D3 receptor levels to clinical parameters was found. This study shows that carcinomas originating from the kidney, the major vitamin D regulating organ, usually contain the 1,25-(OH)2D3 receptor. The receptor may have a cellular function in the transformed cell.

Adult↗
PubMed1988

Estrogen treatment of excessively tall girls with Marfan syndrome.

Five girls with Marfan syndrome were treated with estrogens for reduction of their final heights. Treatment was started at a chronological age of 12.0 +/- 0.5 years and height of 173.0 +/- 3.1 cm (means +/- SEM). Skeletal age was 12.4 +/- 0.2 years and Bayley-Pinneau final height prediction 186.3 +/- 1.4 cm. Estrogen treatment for 2.0 +/- 0.4 years resulted in final height of 184.1 +/- 0.2 cm (p less than 0.05). The weight increased with 7.8 +/- 2.7 kg during the treatment period. The present results indicate that estrogen treatment may be effective in reducing adult height in girls with Marfan syndrome, but that the effect is probably less than that observed in normally tall girls. This may probably be explained by the rather late start of treatment. No immediate effects on aortic root diameters were observed. Estrogen treatment in Marfan syndrome is discussed with regard to beneficial effects, possible side-effects and optimal age for starting treatment.

Body Height↗
PubMed1988

45,X/47,XY,+13 mosaicism and Crohn's disease.

The unusual karyotype 45,X/47,XY,+13 in an 8.5-year-old girl with the Turner phenotype is described. She displayed none of the phenotypic manifestations of trisomy 13. The patient suffered from Crohn's disease, which is known to be associated with the Turner syndrome. To our knowledge this is the first reported case of Crohn's disease in a patient with 45,X and Y chromosome mosaicism.

Child↗
PubMed1988

Serum levels of vitamin D3 and 25-hydroxyvitamin D3 in elderly and young adults.

Serum levels of vitamin D3, 25(OH)D3, and vitamin D binding protein (DBP) were measured in a group of elderly subjects (71-96 years) and a group of young adults (22-40 years). The mean serum levels of vitamin D3, 25(OH)D3 and DBP were significantly lower in the elderly subjects compared to the young adults. The mean molar ratio of 25(OH)D3 to vitamin D3 was significantly higher in the elderly compared to the young adults. A parabolic relationship was found between the serum levels of 25(OH)D3 and vitamin D3 in both groups. This relationship gives a higher ratio of the serum levels of 25(OH)D3 to vitamin D3 in the lower part of the vitamin D3 range. Our data do not indicate impaired hepatic 25-hydroxylation of vitamin D3 in the elderly.

Adult↗
PubMed1987

45,X/46,XY mosaicism. A clinical review and report of ten cases.

The clinical findings in ten patients with 45,X/46,XY mosaicism are described. Three girls presented with short stature, delayed sexual development or Turner-like stigmata without signs of virilization. Bilaterally gonadoblastomas were found in two girls, and the gonads in one of these girls also contained mucinous cystadenomas. The remaining seven patients were raised as boys. Three had scrotal hypospadias and mixed gonadal dysgenesis. Three presented as male pseudohermaphrodites with scrotal or penoscrotal hypospadias and bilateral testes. One male was diagnosed in adulthood because of gynecomastia, but had normal male external genitals. The clinical findings illustrate the wide spectrum of phenotypic manifestations of 45,X/46,XY mosaicism, ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, male pseudohermaphroditism to almost phenotypic normal males.

Adolescent↗
PubMed1987

Intermittent high-dose vitamin D prophylaxis during infancy: effect on vitamin D metabolites, calcium, and phosphorus.

In infants receiving intermittent high dose vitamin D prophylaxis (600,000 IU ergocalciferol per dose orally) every 3-5 mo, the serum concentrations of vitamin D metabolites, calcium (Ca), and phosphorus (P) were determined before and 2 wk after each dose. The 25-hydroxyvitamin D (OHD) concentrations increased to well above normal but the values returned to the normal range before each subsequent dose. The 24,25- and 25,26-dihydroxyvitamin D ([OH]2D) levels followed a pattern similar to that of 25-OHD, and both were closely related to the latter (r = 0.85, p less than 0.005, and r = 0.84, p less than 0.005, respectively). The 1,25-(OH)2D concentrations did not vary in a consistent pattern and remained largely within the normal range. All infants had normal Ca levels before the first dose but 14 infants (34%) later had one or both Ca values above the upper normal limit of 2.80 mmol/L (2.81-3.32 mmol/L), indicating that the vitamin D doses were excessive despite the lack of accumulative increases in serum vitamin D concentrations.

24,25-Dihydroxyvitamin D 3↗
PubMed1987

Elevated 1,25-dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome.

Two brothers with Williams syndrome without hypercalcaemia are presented. One boy died during the first month of life. His brother also had the typical phenotypic features of the elfin facies. He developed severe microcephaly and cataract and died at the age of 9 years. The skeleton was osteosclerotic at birth, and became generally osteoporotic at the age of 2 years. He had persistently elevated 1,25-dihydroxyvitamin D levels during the first 2 years of life, in spite of normocalcaemia. At autopsy, microcalcifications were found in the brain and kidneys. The present report underscores the familial occurrence of Williams syndrome of severe degree. Elevated 1,25-dihydroxyvitamin D levels without hypercalcaemia have not been reported previously, and may suggest causal heterogeneity of the Williams syndrome.

Brain↗
PubMed1987

Growth hormone therapy in short stature.

Unlimited availability of growth hormone (GH), and the demonstration of increased growth velocity (GV) during GH treatment in non-GH-deficient children have suggested new indications for GH therapy in short stature. There are two principle conditions with GH-related short stature: classical growth hormone deficiency (CGHD) and growth hormone neurosecretory dysfunction (GHND). Present knowledge about the effects of GH treatment in these and other disorders of short stature are reviewed. In non-CGHD, it is not possible to predict the short-term effect on growth during GH therapy, and even if GV increases, the effect on final adult height remains to be documented. This, together with potential side effects and the high expense of GH treatment, exhort to a restricted attitude towards routine GH treatment of short children without GH deficiency.

Adolescent↗
PubMed1987

Growth hormone deficiency associated with the ectrodactyly-ectodermal dysplasia-clefting syndrome and isolated absent septum pellucidum.

Two growth hormone-deficient patients with particular developmental defects are presented. One patient had the ectrodactyly-ectodermal dysplasia-clefting syndrome with lobster-claw deformities of the hands; thin, blond, and dry hair and enamel hypoplasia; and a facial raphe on the right side of the philtrum. The other patient had isolated absence of the septum pellucidum. The facial raphe and the absent septum pellucidum are related to cleft lip and septooptic dysplasia, conditions that have been associated with growth hormone failure. The association of the ectrodactyly-ectodermal dysplasia-clefting syndrome with isolated growth hormone deficiency has not been described previously.

Abnormalities, Multiple↗
PubMed1986

Treatment of Cushing's disease in childhood and adolescence by stereotactic pituitary irradiation.

Eight children with Cushing's disease aged 6-18 years were treated with external radiation to the pituitary gland using 60Co gamma radiation given with stereotactic technique. The dose given varied between 50 and 70 Gy. The observation time was 2.6 to 6.75 years. Seven children had a clinical remission with normal urinary cortisol excretion. One child had insufficient effect of two irradiations and underwent bilateral adrenalectomy. In the patients in remission the growth velocity increased during the first year after treatment but growth retardation occurred again during the second year. Insufficient growth hormone secretion was demonstrated in all subjects. Two patients were given thyroxine substitution and three showed evidence for secondary hypogonadism. In conclusion, stereotactic pituitary irradiation was effective in normalizing the excessive glucocorticoid production in children with Cushing's disease. However, with the doses used, it was not possible to maintain a normal anterior pituitary function.

Adolescent↗
PubMed1986

Plasma concentrations of vitamin D metabolites in pubertal girls with anorexia nervosa.

Plasma concentrations of 25-hydroxyvitamin D (25-OHD), 1,25-dihydroxyvitamin D (1,25-(OH)2D), 24,25-dihydroxyvitamin D (24,25-(OH)2D) and vitamin D-binding protein (DBP) were measured in 12 pubertal girls (aged 10-18 yr) with anorexia nervosa in relapse. The results were compared with similar data obtained in 81 healthy girls representing all stages of puberty. The patients with anorexia nervosa had significantly lower 1,25-(OH)2D levels (71 vs. 124 pmol/l; p less than 0.0005), and significantly higher 24,25-(OH)2D levels (6.0 vs. 3.2 nmol/l; p less than 0.0005), whereas the 25-OHD concentrations were similar in the two groups (85.7 vs. 86.7 nmol/l). The molar ratios of 24,25-(OH)2D to 25-OHD, which reflects the relative activity of the 24-hydroxylation, were significantly higher in the anorectics (6.6% vs. 3.6%; p less than 0.0005). The mean level of DBP did not differ between the two groups, and accordingly the calculated "free-fraction of 1,25-(OH)2D" was significantly lower in the anorectic patients (p less than 0.0005). It appears that the regulatory mechanisms of the vitamin D endocrine system are altered in the patients with anorexia nervosa at puberty resulting in a relative decrease of the plasma concentration of 1,25-(OH)2D and increase of the 24,25-(OH)2D concentration.

24,25-Dihydroxyvitamin D 3↗
PubMed1986

Serum concentrations of vitamin D metabolites in vitamin D supplemented pregnant women. A longitudinal study.

The serum concentrations of the vitamin D metabolites 25-OHD, 1,25-(OH)2D, 24,25-(OH)2D and 25,26-(OH)2D, and of vitamin D binding protein (DBP), were determined longitudinally in 22 vitamin D supplemented pregnant women, and in 17 age-matched non-pregnant women studied during the summer. The pregnant women had higher 25-OHD and 1,25-(OH)2D, similar 24,25-(OH)2D, and lower 25,26-(OH)2D concentrations than the non-pregnant group. The relative concentrations of 24,25-(OH)2D and 25,26-(OH)2D (expressed as the molar ratio of these metabolites to 25-OHD) were lower during pregnancy. The DBP levels were increased in pregnancy, but the calculated free fraction (i.e. not bound to DBP) of the hormonal form of vitamin D, 1,25-(OH)2D, was still persistently higher in the pregnant than in the non-pregnant women. The study suggests that a daily vitamin D supplement of 400 IU satisfies the vitamin D requirement of pregnant women living in a cool climate with limited sun exposure. The increased absolute and relative concentration of 1,25-(OH)2D and decreased relative levels of 24,25-(OH)2D and 25,26-(OH)2D further suggest that the increased intestinal calcium and phosphate absorption, which is known to occur during pregnancy, is at least partially mediated by the vitamin D endocrine system.

24,25-Dihydroxyvitamin D 3↗