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Biomedical subjects

J Perheentupa

Publications and source records attributed to J Perheentupa.

At least 163 records · Page 9Linked to original sources
PubMed1983

Steroidogenic response to a single injection of hCG in pre- and early pubertal cryptorchid boys.

The temporal response patterns of the concentrations of serum testosterone, oestradiol, 17-hydroxyprogesterone, pregnenolone, progesterone, androstenedione and 5 alpha-dihydrotestosterone to a single i.m. dose of hCG (5000 IU/1.7 m2) were investigated in prepubertal and early pubertal cryptorchid boys, and compared with the response patterns obtained earlier in adult men. The rapid response (at approximately 2-4 h) of serum testosterone was lacking in all boys, whereas the slow response at 2-5 days was constant. The relative response (the maximum stimulated concentration vs. the basal level) of serum testosterone was 70-fold in prepubertal boys and 6-fold at early puberty, compared with 2.4-fold in adult men. Serum oestradiol and 17-hydroxyprogesterone concentrations did not increase in the prepubertal boys, but did increase at early puberty, revealing a pattern similar to that observed in adult men. Hence, the prepubertal endocrine testis appears to be very responsive to hCG stimulation, and this responsiveness is rapidly lost with advancing puberty. The absolute increases, however, were smallest in prepubertal boys, perhaps reflecting the small potential Leydig cell mass. The responses of serum oestradiol and 17-hydroxyprogesterone to hCG appeared later during the boys' development than the response of serum testosterone. The relative testosterone response was maximal in the absence of an oestradiol response. It is suggested that testicular oestradiol production in response to LH/hCG appears in the course of puberty and results in intratesticular short-loop feed-back inhibition of androgen production. This is reflected by the appearance of a 17-hydroxyprogesterone response and by a decrease in relative testosterone response.

17-alpha-Hydroxyprogesterone↗
PubMed1983

"Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance.

In lysinuric protein intolerance, diamino acid transport is defective at the basolateral membrane of the jejunal and renotubular epithelia. The plasma has depressed concentrations of ornithine and arginine but, in contrast, supranormal levels of another urea cycle intermediate, citrulline. The patients have "ornithinopenic" postprandial hyperammonemia. The concentrations of the diamino acids and citrulline in the patients' liver were normal or elevated rather than depressed. Their extrarenal plasma clearance of citrulline and its conversion to arginine and ornithine were retarded. A hypothesis reconciles these apparently conflicting findings: in the hepatocytes the transport defect is located in the "basolateral" cell membrane and in the mitochondrial membranes. The diamino acids accumulate in the cytoplasm, because exit from the cells and transport into the mitochondria are impaired, but these acids are depleted in the mitochondria, where ornithine is needed in the urea cycle. As a result, the urea cycle is reversed at this point, producing citrulline.

Adolescent↗
PubMed1983

Congenital hypothyroidism: age at start of treatment versus outcome.

We studied 27 patients with congenital hypothyroidism by neurological and psychometric methods. 7 healthy siblings served as a control group for the psychometric evaluation. In 7 patients treatment had been started before the age of 1 month and in 10 patients after the age of 3 months. Our findings suggest that the progressive loss of intelligence potential starts from birth but if treatment is begun before the age of 1 month, then intelligence remains within normal range. The neurological damage seems to originate partly before birth, but more serious injuries arise if treatment is delayed beyond the age of 3 months.

Age Factors↗
PubMed1983

Male pseudohermaphroditism due to deficiency of testicular 17-ketosteroid reductase.

A 12.9 year-old girl, genotypically 46, XY, and considered to have a testicular feminization syndrome, developed signs of virilization and gynaecomastia. Very high androstenedione concentrations (10-fold the mean of the reference interval in boys) in relation to low normal testosterone in peripheral serum indicated a 17-ketosteroid reductase deficiency. In addition to androstenedione, the basal peripheral levels of 17-hydroxyprogesterone and estrone were increased, being 5- and 3-fold the mean of the reference interval, respectively, whereas pregnenolone, progesterone, dehydroepiandrosterone, 5 alpha-dihydrotestosterone and estradiol concentrations were within pubertal stage-appropriate reference intervals. The total spermatic vein serum steroid concentrations were about 5-fold the mean in old men, and androstenedione, estrone and dehydroepiandrosterone were particularly elevated, whereas estradiol was normal and testosterone subnormal by a factor of 1/8. In the testis tissue, the concentration of androstenedione was extremely high, whereas that of testosterone tended to be relatively low. Our patient was obviously producing testicular steroids at her maximal rate, because no response to hCG administration was observed. This state was associated with a high-normal circulating LH concentration. The concentration of testicular LH/hCG receptors was only one-fifth of that seen in old men, which may have resulted from receptor down-regulation associated with a high degree of stimulation.

17-Hydroxysteroid Dehydrogenases↗
PubMed1983

Benign premature adrenarche: clinical features and serum steroid levels.

18 girls with premature adrenarche were evaluated both clinically and by serum steroid measurements. Age at first appearance of the symptoms ranged from 3.0 to 7.8 years. Clinical findings included pubic or axillary hair, acne, accelerated growth, adult-type perspiration and oily skin or hair. Bone age was 0.3-3.2 years ahead of chronological age. 15 of these 18 girls had accelerated growth and most of these already before the appearance of pubic hair. Five girls had severe acne requiring topical treatment. Serum dehydroepiandrosterone was elevated for age in all patients. Androstenedione and testosterone correlated positively with the dehydroepiandrosterone values. Dihydrotestosterone was also elevated in many girls. Administration of dexamethasone brought about a rapid normalization of the elevated steroid levels.

17-alpha-Hydroxyprogesterone↗
PubMed1983

The diagnosis and staging of hypocortisolism in progressing autoimmune adrenalitis.

The course of development of hypocortisolism was studied in 20 patients with autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED) for 1.3-9.3 years during which time the patients underwent at least three 2-h ACTH tests (2hAT). A slow progression of the disease was evident and could be staged. The earliest indicators of incipient failure were subnormality of the 2-h cortisol level alone or with subnormality of the 2-h increment. The increment was then abolished. A normal basal level was maintained longer. Longer forms of the ACTH tests produced normal responses even after the early stages of failure. A constantly elevated ACTH concentration and low cortisol/ACTH ratio in plasma were likewise signs of advanced hypocortisolism. Current criteria of primary hypocortisolism are thus indicators of the late stages of failure only. The presence of circulating adrenocortical antibodies is predictive of hypocortisolism. Some patients had normal 2hAT responses, but antibodies and subnormal cortisol/ACTH ratios. This may represent a state of compensatory activation of the hypothalamic-pituitary-adrenocortical axis.

Adolescent↗
PubMed1982

Histochemical and biochemical study of hereditary fibrous hyperplasia of the gingiva.

Four patients with hereditary hyperplasia of the gingiva were studied. Biopsy samples of gingival tissue contained subepithelial loose connective tissue with thick rounded fibroblasts or dense collagen-rich connective tissue with thin fibroblasts, which appeared to be inactive. These two types of fibroblasts differed in electron microscopy. Alcian blue-staining of intercellular material in various MgCl2 concentrations was similar in hyperplastic and control samples. Collagen from the hyperplastic gingiva appeared to be more mature than normal, based on the presence of stable, nonreducible cross lines. An investigation of growth hormone secretion and a treatment trial suggested that the growth retardation observed in earlier studies was due to normal variation in growth rates or (in one patient) to hypopituitarism associated with birth in breech presentation.

Adolescent↗
PubMed1982

Acceleration of delayed growth with fluoxymesterone.

61 boys with constitutional delay of growth and maturation, aged 9-19 years and with a bone age (BA) lag of 1.3-5.5 years, were administered fluoxymesterone (0.05-0.24 mg/kg daily orally, relative dose increasing with age) to accelerate growth. The therapy was continuous and lasted 0.4-3.6 years. The findings are compared with 37 observation periods in a similar group of untreated boys. Growth velocity increased in every treated boy during the therapy, the mean first-year increment being 4.3 +/- 1.6 cm/year. For most boys this brought about a decrease in the height difference from peers, and so afforded the psychosocial relief that was the objective of the therapy. After therapy the velocity decreased slightly in most boys, from a mean of 9.1 +/- 1.4 to 7.1 +/- 3.3 cm/year. The effect of the intervention on final height was assessed by three relatively independent methods of prediction. These were found to be equally valid in the 15 control boys for whom final heights are known. The effect appeared to vary individually, but on the average there appeared to be no loss of height potential. No individual boy with initial BA greater than 10.5 years showed a substantial reduction in predicted final height.

Adolescent↗
PubMed1982

Mulibrey nanism, an autosomal recessive syndrome with ocular involvement.

Mulibrey nanism is a rare autosomal recessive condition characterized by a growth failure of pre-natal onset and several associated dysmorphic features. On ophthalmoscopy the optic disc and macula have a normal appearance while the midperiphery and more peripheral areas have revealed hypopigmentation and pigment scattering. By fluorescein angiography areas of focal choroidal hypoplasia have been noted. Histopathological examination of a typical case revealed atrophy of the corneal epithelium and thickening of the Bowman's membrane. The optic nerve and the macula appeared normal while the midperiphery showed focal choroidal hypoplasia with marked atrophy of the retina and of the pigment epithelium. Occasional drusen were also noted in this area. The findings do confirm the hypothesis that the choroidal changes represent one further manifestation originating from mesodermal tissues in these patients.

Abnormalities, Multiple↗
PubMed1982

Subnormal pubertal increases of serum androgens in Turner's syndrome.

60 patients (139 blood specimens) with Turner's syndrome were investigated in order to obtain information concerning the origin of the increments of androgens during puberty. The concentrations of serum FSH, LH, estradiol, testosterone, 5 alpha-dihydrotestosterone, dehydroepiandrosterone, progesterone, 17-hydroxyprogesterone and pregnenolone in patients less than 10 years old were identical to those previously found in normal healthy girls of the same age. Hence, in adrenarche the early increase of androgen secretion is independent of gonadal hormone secretion. The later increases in serum testosterone and androstenedione in our patients were very small, and the age of 15 years, their concentrations were 50 and 60%, respectively, of the corresponding levels in normal girls of the same age. After 13 years of age, the mean serum dehydroepiandrosterone concentration was also slightly, but significantly (20-30%), lower than in normal girls of the same age. It is concluded that the ovaries are responsible for most of the pubertal rises in circulating testosterone and androstenedione, and possibly for a small part of the late pubertal rise in dehydroepiandrosterone.

Adolescent↗
PubMed1981

Lysinuric protein intolerance. Basolateral transport defect in renal tubuli.

In patients with an autosomal recessive diamino acid transport disorder, lysinuric protein intolerance (LPI), we measured plasma and urinary amino acids basally, and during intravenous infusion of citrulline at two rates. Compared with controls, the patients' plasma citrulline concentrations rose similarly, but urinary citrulline excretion increased excessively. Their plasma arginine and ornithine levels rose subnormally, but massive argininuria and moderate ornithinuria appeared. The excretion rates of the third diamino acid lysine and other amino acids remained practically unaltered, thus excluding mutual competition as the cause for the increases. The results suggest that (a) in the normal kidney reabsorption involves partial conversion of citrulline to arginine and ornithine (metabolic run-out), (b) in LPI, the diamino acid transport defect is located at the basolateral cell membrane of the renal tubules; this inhibits the efflux of arginine and ornithine, increasing their cellular concentration, which in turn inhibits the metabolic disposal of citrulline, and causes leakage of arginine, ornithine, and citrulline into the tubular lumen.

Adult↗
PubMed1981

Increase in thyroxine-binding globulin (TBG) in lysinuric protein intolerance.

The common occurrence of increased serum PBI concentration in patients with lysinuric protein intolerance (LPI) was elucidated by further studies. The reason was found to be an increase in the concentration of thyroid binding globulin (TBG), concomitantly with an increase in the binding capacity of TBG. The concentrations of serum thyroxine and triiodothyronine were elevated, whereas the free thyroxine index remained normal. The free triiodothyronine index was slightly increased. The binding capacity of thyroid hormone binding pre-albumin (TBPA) was significantly decreased. The concentrations of reverse triiodothyronine (3,3',5'-T3) and of 3,3'-diiodothyronine were normal. In all patients serum lactic acid dehydrogenase activities and ferritin concentrations were elevated. The reason for the almost constant increase in TBG remains obscure. It may be related to the primary disorder of LPI, a defect in diaminoacid transport.

Adolescent↗
PubMed1980

Basolateral-membrane transport defect for lysine in lysinuric protein intolerance.

In lysinuric protein intolerance intestinal, hepatic, and renal diaminoacid transport is defective, causing malnutrition. In patients fed with lysylglycine plasma glycine increased normally, but lysine increased as poorly as with free lysine. This is the first demonstration of defective peptide absorption. The primary defect is suggested to be at the basolateral cell membrane.

Amino Acid Metabolism, Inborn Errors↗