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Biomedical subjects

J Homoki

Publications and source records attributed to J Homoki.

At least 19 recordsLinked to original sources
PubMed1992

Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.

To improve diagnostic criteria in different (classical salt-wasting (SW), classical simple virilizing (SV) and non classical late onset (LO)) forms of congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency, we investigated the urinary excretion of 17-hydroxypregnanolones (17OH-PO(5 beta) and (5 alpha)), 15 beta-hydroxypregnanolone(15 beta OH-PO), pregnanetriol(PT) and 11-oxo-pregnanetriol (11-O-PT) compared to hydrocortisone metabolities. During the 1st month of life newborn infants with CAH-SW excreted from barely detectable to very large amounts of 17OH-PO(5 beta), 15 beta OH-PO and PT, and, in 12 of 14 cases, also 11-O-PT in their urines. From the 1st to the 28th day of life, cortisol metabolites were virtually absent in urines of CAH-SW infants. This was in contrast of 36 healthy newborn infants. We measured the excretion of 17OH-PO(5 alpha) in children with CAH of whom 19 patients with CAH-SV had a median 17OH-PO(5 alpha) excretion of 1110 micrograms/day (range: 152-5515). In 21 patients with CAH-LO, median excretion of 17OH-PO(5 alpha) was 294 micrograms/day (range: 66-1273). Besides the conventional metabolites of 17-hydroxyprogesterone (17OH-PO(5 beta), PT and 11-O-PT), no 17OH-PO(5 alpha) was detected in the urines of 14 patients with precocious pubarche, in 14 patients with virilization of unknown origin and in 94 healthy children of comparable age. The ratio of 17OH-PO(5 alpha) to tetrahydrocortisone (THE) discriminated between CAH-SV and CAH-LO from the 1st to the 18th year of age.(ABSTRACT TRUNCATED AT 250 WORDS)

17-alpha-Hydroxypregnenolone↗
PubMed1992

Androgen metabolism assessment by routine gas chromatography/mass spectrometry profiling of plasma steroids: Part 1, Unconjugated steroids.

Using gas chromatography/mass spectrometry we have developed a method for the simultaneous determination of six plasma steroids: testosterone, 4-androstenedione, 17 alpha-hydroxyprogesterone, 5 alpha-androstane-3 alpha,17 beta-diol, 5 alpha-dihydrotestosterone, and dehydroepiandrosterone. For each analyte, a deuterium-labeled internal standard was used for quantification. Due to the high isotopic purity of our standards, no complex corrections for isotope contributions were necessary. The procedure provides a sensitive and specific technique with good accuracy and precision.

17-alpha-Hydroxyprogesterone↗
PubMed1991

Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies.

Infection-triggered, life-threatening salt-loss and hyperkalaemia developed in two male infants with wasting, inappropriately low plasma aldosterone concentrations and elevated plasma renin activity. The presumptive diagnosis of a defective terminal step in aldosterone biosynthesis was made by the presence of large amounts of 11-dehydrotetrahydrocorticosterone and its 18-hydroxylated metabolite (18-OH-THA), free 18-hydroxycorticosterone (18-OH-B) and 18-hydroxytetrahydrocorticosterone in the urine of both patients. The diagnosis of corticosterone methyl oxidase type II (CMO II) deficiency was confirmed by an elevated urinary 18-OH-THA to tetrahydroaldosterone ratio in one boy and by an elevated plasma 18-OH-B to aldosterone ratio in the other boy. Unknown steroids responsible for the salt-loss were not identified. Sodium supplementation but not short-term high dose oral 9 alpha-fluorcortisol (FF) normalized the hyponatraemia in one patient, in whom sodium (Na+)/potassium (K+) co-transport was decreased. Both patients eventually received long-term FF treatment to prevent impairment of longitudinal growth caused by chronic salt-loss. The diagnosis of CMO II deficiency should always be confirmed by elevated precursor-product ratios in urine or plasma, using radioimmunoassays with prior chromatographic separation. Metabolic studies as the short-term response of serum Na+ to high dose FF may not be helpful in differentiating aldosterone biosynthetic defects from end-organ resistance to mineralocorticoids.

Cortisone↗
PubMed1990

[Conservative strategies in treating thyroid diseases in children].

In the Federal Republic of Germany disorders of the thyroid gland are among the most common chronic diseases of childhood and adolescence. In Munich 30% of schoolchildren, in Göttingen 16% of children 6 to 16 years of age have goiters. Iodine deficiency is the most important etiological reason for the development of euthyroid goiter, which is encountered in more than 80% of children and adolescents suffering from thyroid disorders. Lymphocytic chronic thyroiditis (Hashimoto) causes goiters which may be eu-, hypo- but also hyperthyroid. Thyrotoxicosis (M. Basedow, Grave's Disease) in childhood occurs mainly in pubertal girls. The frequency of congenital hypothyroidism in West Germany is 1:3,800 neonates. The postnatally acquired hypothyroidism in childhood is as rare as hyperthyroidism caused by toxic thyroid adenoma. 27% of nodular goiters in childhood are due to Thyroid carcinoma. The diagnostic procedure of evaluation of thyroid disorders in childhood includes family and past personal history, palpatory findings, ultrasonography and the determination of TSH and thyroid hormone plasma concentrations. The aims of conservative management of thyroid diseases during childhood and adolescence are 1st normalisation of size of the thyroid gland, 2nd achievement and maintenance of euthyroid function.(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗
PubMed1989

[Nerve-sparing, feminizing genital reconstruction to correct genital virilism: Experience of 25 children with adrenogenital syndrome].

The reconstruction of the virilized genitalia in females with adrenogenital syndrome (AGS) is carried out sparing the dorsal neurovascular bundle either through clitoral recession or reduction with simultaneous vaginoplasty and clitoroplasty. Within seven years, 25 girls aged 6 months to 16 years (mean 2 1/2 years) with AGS had a nerve-sparing genital reconstruction with resection of the clitoral shaft in one session as described by Praetorius. 23 children had a C21-defect and 1 a C11 beta-hydroxylase defect; one child had an external virilisation. All children were followed over an average period of 50 months: 21 had a good cosmetic result, the glans had a normal blood supply and was sensitive to a prick test; in 2 girls nerve integrity was demonstrated by somato-sensory evoked potentials. 2 children had small disturbing skin folds of the newly created labia and 2 girls had a somewhat scrotal appearance of the labia. The introitus caliber measured 14 F in girls operated before 6 years of age; however, a 14- and 16-year-old required intermittent bougienage.

Adolescent↗
PubMed1988

Deposition of cocaine in tissue after lethal and repeated sublethal administration to sheep.

The deposition of cocaine in tissue after lethal administration to sheep was investigated. In addition, the presence of cocaine in tissue obtained from sheep treated for 30 days with a sublethal dose (2.4 mg/kg b.wt.) after 1-day, 1-week, or 1-month withdrawal was studied. The determination of cocaine was performed by radioimmunoassay. The concentrations measured represent the sum of cocaine and its metabolites. The presence of cocaine was also qualitatively proven by gas chromatography/mass spectrometry. After a lethal dose administration cocaine was found in all investigated organs. The highest concentrations were present in liver, bile, and kidney. In tissue obtained from the sheep treated daily with a sublethal dose and killed after 1-week withdrawal, the concentrations found were significantly lower. After 1-month withdrawal, cocaine was not to be discovered in tissue.

Animals↗
PubMed1988

Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents.

Patients suffering from late onset 21-hydroxylase deficiency (LO-CAH) excreted only slightly higher amounts of 17-hydroxypregnanolone (17-OH-PO), pregnanetriol (PT) and 11-oxo-pregnanetriol (11-O-PT) than age-matched healthy controls. To discriminate between LO-CAH and virilization of unknown origin and precocious pubarche, we calculated the following ratios: (1) pregnanetriol to tetrahydrocortisone (PT/THE), (2) the sum of 17-OH-PO, PT and 11-O-PT (OHP-M) to the sum of THE, tetrahydrocortisol (THF) and allotetrahydrocortisol (a-THF) (C-M) and (3) 11-O-PT to C-M. The following patients were studied: 9 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency-non-salt losing (CAH-NSL), never treated; 8 patients with CAH (NSL/SL: 3/5) off treatment; 10 patients with LO-CAH; 11 patients with virilization of unknown origin (prepubertal/pubertal: 5/6) and 9 patients with precocious pubarche. Healthy individuals and obligatory heterozygote carriers of comparable ages served as controls. LO-CAH showed increased ratios (median (range] of PT/THE: 2.27, (1.15-9.09), OHP-M/C-M: 2.30, (1.24-8.15), and 11-O-PT/C-M: 0.24, (0.13-1.23) compared to healthy individuals and heterozygous carriers: PT/THE 0.28, (0.03-0.57), OHP-M/C-M 0.23, (0.06-0.46) and 11-O-PT/C-M less than 0.01, (less than 0.01-0.06), respectively. The calculation of ratios, rather than absolute amounts seems to allow the detection of LO-CAH in a single spontaneously voided urine specimen. The clinical and measurable hormonal manifestations of LO-CAH occur at the same time.

Adolescent↗
PubMed1988

Testosterone-secreting adrenocortical tumor in a pubertal girl. Case report and review of the literature.

A girl aged 12 years and 10 months presented with deepening of the voice first noted 7 months earlier. Pubertal development was almost completed. The girl had regular monthly menses and no signs of hirsutism, clitoris enlargement or Cushing's disease. Serum testosterone was about threefold above normal, whereas dehydroepiandrosterone was in the upper normal range. The 17-ketosteroids as well as the gas-chromatographically analyzed 5 alpha and 5 beta derivatives of testosterone from urine were slightly increased. Other serum and urinary steroids were normal. Dynamic tests of the endocrine function exhibited inconclusive results. Ultrasonography revealed no ovarian cysts. A small, left-sided adrenal mass was identified by computed axial tomographic scan and removed by surgery. There were no signs of local metastasis nor of vascular extension. The histopathological diagnosis was adrenocortical carcinoma. 5 months after surgery, the preoperatively elevated steroid levels had returned to normal.

Adolescent↗
PubMed1987

[Urinary steroid profile in Cushing syndrome and in tumors of the adrenal cortex].

The analysis of 24-h excretion profiles of urinary steroids in 18 patients suffering from Cushing's syndrome or adrenocortical tumors revealed typical patterns when compared to 37 healthy control persons, 24 patients with obesity, and 6 patients with hirsutism. The validation of eight criteria--increased excretion of free cortisol, 6 beta-hydroxycortisol, 20 alpha-dihydrocortisol, 11 beta-hydroxyandrosterone, and 3 beta-hydroxy-5-en steroids, decreased ratio of tetrahydrocortisone (THE) to tetrahydrocortisol (THF), and increased ratios of THF to allotetrahydrocortisol (a-THF) and metabolites of androgens (AM) to metabolites of cortisol (CM)--afforded reliable detection of disorders in steroid biosynthesis. The analysis of urinary steroid profiles can therefore be recommended as a screening procedure in patients with clinical symptoms of disorders in steroid production and/or metabolism.

17-Hydroxycorticosteroids↗
PubMed1987

Determination of cocaine in human hair by gas chromatography/mass spectrometry.

A qualitative method for the determination of cocaine alone without its metabolites in human hair by gas chromatography/mass spectrometry (GC/MS) was developed. The assay used helium as carrier gas, a 30-m bonded phase fused silica OV-1 capillary column, and solid injection at 290 degrees C evaporator temperature. The cocaine concentrations in hair were determined also by radioimmunoassay (RIA). The values obtained are the sum of cocaine and its metabolites. Both GC/MS and RIA meet the requirements for the determination of drug abuse by two different methods in forensic science.

Animals↗
PubMed1987

The effects of cyproterone acetate on statural growth in children with precocious puberty.

Forty-four patients (42 f, 2 m) with precocious puberty (31 idiopathic, 1 familial, 7 cerebral, 5 McCune-Albright) were treated with cyproterone acetate for periods of 1-8.75 years in different (P less than 0.05) daily dosages of 117 +/- 6.1 mg/m2 per day (mean +/- SEM, group A, N = 20) and 60.8 +/- 2.42 mg/m2 per day (group B, N = 24). Thirty-three girls had experienced menarche before therapy at a mean age of 4.89 +/- 0.42 years. Treatment was started at a chronologic age of 5.45 +/- 0.33 years in the girls and 5.74 +/- 1.34 years in the boys. At the time of evaluation, 31 of our patients had reached final height. With respect to the effects of treatment on statural growth, the Standard Deviation Scores were retrospectively determined for height, weight, and growth velocity. The initial Bayley-Pinneau height predictions were compared with final height and target height, and the skeletal maturation was studied. There were no significant differences between those parameters in the patients of group A and B or between treated and untreated subjects as far as final height and target height were concerned. It is concluded that cyproterone acetate administered orally at daily doses from 50-150 mg/m2 does not improve statural growth of patients with precocious puberty.

Body Height↗
PubMed1986

Placental transfer of parathyroid hormone.

We investigated the in vitro transfer of three parathyroid hormone (PTH) fragments (amino acids 35-84, 44-68 and 65-84) through human placenta at term. The perfused and transferred fragments were measured radioimmunologically and identified by three different methods: high-pressure-liquid chromatography (HPLC), preparative flat-bed electrofocusing (PEGG), and gel filtration (GF). The study demonstrated that PTH fragments traverse the human placenta. The transferred and perfused fragments were identical. We observed a significant degradation of the perfused hormone during the passage through the placenta in both fetal and maternal directions. In addition, we measured the PTH concentrations on forty samples of maternal and umbilical cord artery and vein plasma obtained immediately after delivery. A highly significant correlation of PTH concentrations in the maternal and umbilical cord vessels was observed. These findings support the contention that human placenta at term is permeable for PTH fragments.

Female↗
PubMed1986

Adrenarche is dissociated from gonadarche--studies in patients with Turner's syndrome.

Twenty-two patients with gonadal dysgenesis (14 45,XO; median age 13.6 years; 8 mosaics, median age 12.3 years) were studied regarding their clinical onset of adrenarche (pubarche) and breast development. The latter was considered evidence of gonadarche. 1/22 showed breast development, stage 2; 9/22 had pubarche, stage 2-4. The 24h-urinary excretion of androsterone, etiocholanolone, dehydroepiandrosterone, 16 alpha- and 16 beta-dehydroepiandrosterone was studied in these patients by urinary capillary column gas chromatography profiling. The urinary steroid profiles of twenty-one healthy, normal girls (median age 10.4 years) served as controls. Dehydroepiandrosterone and its 16-hydroxylated derivatives were excreted in significantly greater amounts by the patients with Turner's syndrome as compared to normal girls. These findings support the hypothesis, that adrenarche is independent of gonadarche and proceeds even in instances of gonadal dysgenesis.

Adolescent↗
PubMed1977

Application of glass capillary gas chromatography to the study of urinary steroid excretion in normal children and in patients with various endocrinopathies.

A method of gas chromatography on glass capillary columns (g. c. c. c.) is presented which allows the determination of 26 urinary C19 and C21 steroid metabolites in one procedure. Hundredthirtyseven normal individuals of both sexes from 6 months through 32 years of age were studied regarding their urinary steroid patterns. These were compared to the excretion patterns of patients with congenital adrenal hyperplasia before and during treatment and of a child with virilizing adrenal carcinoma. From the results it is concluded that g. c. c. c. may be considered a valuable tool in the study of steroid production and metabolism.

Adolescent↗
PubMed1976

A test for heterozygocity of 21-hydroxylase deficiency: preliminary report.

The urinary excretion of steroids was studied in 8 parents of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency of the simple virilizing and of the salt-losing type. Eight parents of normal children served as controls. 24-hour urines before and after the injection of 40 IU of ACTH were fractionated using gas liquid chromatography on glass capillary columns. Before stimulation no excretion of pregnanetriolone was detected in heterozygous and in normal parents. Following ACTH only heterozygotes showed an excretion of pregnanetriolone in the urine. This averaged 289 mug per 24 h. Employing gas liquid chromatography on glass capillary columns heterozygous carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency may reliably be detected by their increased urinary excretion of pregnanetriolone following ACTH.

Adrenocortical Hyperfunction↗
PubMed1975

Thyroid function in term newborn infants with congenital goiter.

Eighty-four term newborn infants without goiter and 45 newborn infants with congenital goiter were studied with regard to thyroid function. The radiologic development of the femoral and tibial epiphyses was evaluated in those with goiter. Fifty-eight percent of the patients had retarded bone age, markedly elevated TSH levels, elevated TBI, decreased total T4I, and decreased PBI values. Forty-two percent of newborn infants with congenital goiter had a normal bone age, normal values for TSH, PBI, and total T4I, and elevated values for TBI. It is concluded that the 58% of the newborn infants with congenital goiter had subtle hypothyroidism. They require substitution therapy with thyroid hormones in order to avoid possible retardation of normal brain development. Patients with congenital goiter who have no biochemical evidence of hypothyroidism should also be treated with thyroid hormones to achieve rapid regression of goiter.

Bone Development↗