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Biomedical subjects

J Sólyom

Publications and source records attributed to J Sólyom.

At least 19 recordsLinked to original sources
PubMed2001

[Androgen insensitivity syndrome. Clinical features and molecular genetics].

Androgen insensitivity syndrome (AIS) is an X-linked hereditary disorder caused by the mutation of the androgen receptor gene leading to variable phenotypes according to the depth of the hormonal resistance. There is a lack of knowledge regarding the criteria used to decide the management of infants with partial AIS, particularly with respect to sex of rearing. Therefore a national survey of patients with AIS in Hungary has been decided to compose a database for analyzing current practice. Preliminary results of the analysis for the mutations in the androgen receptor gene of Hungarian patients with AIS has been presented. The authors suggest that guidelines for clinicians on appropriate diagnostic and management strategies for AIS patients, particularly in the case of suspected partial AIS, would be helpful.

Androgen-Insensitivity Syndrome↗
PubMed2001

Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study.

BACKGROUND: Longitudinal growth and bone age (BA) development are the most important clinical parameters for monitoring adequate glucocorticoid replacement in children with congenital adrenal hyperplasia (CAH). AIM OF THE STUDY: To analyze the growth pattern of patients treated for CAH of the salt wasting (SW) and simple virilizing (SV) clinical forms; to evaluate final height as compared to reference data and individual target height; to evaluate the course of BA development. PATIENTS AND METHODS: A large database of 598 patients with CAH was created in 5 Central European countries and growth data of 341 treated patients with 21-hydroxylase deficiency were analyzed retrospectively. The patients were of Caucasian origin. Centiles were constructed in a cross-sectional manner and an additional longitudinal analysis was performed in order to evaluate the pubertal growth spurt by applying particular statistical methods (Preece-Baines model). RESULTS: The growth of SW CAH patients was impaired in infancy and early childhood (0-3 years of age), but followed normal patterns in childhood until puberty. In contrast, children with SV CAH had normal patterns of growth in infancy and early childhood and were considerably taller than healthy references during childhood. In the longitudinal study, peak height velocity in both boys and girls was normal, but it occurred at an earlier age than in the standard population. The final height of patients with CAH was reduced in comparison to both the reference and the individual target height. No correlations were found between final height and age at the start of the therapy in SV patients or between final height and year of birth. BA was advanced in both types of CAH, but more accelerated in SV patients. CONCLUSION: Characteristic growth patterns for treated SV and SW CAH children were identified, with a normal pubertal growth spurt and reduced final height being observed.

Adolescent↗
PubMed2001

Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries.

Despite the fact that congenital adrenal hyperplasia (CAH) is one of the most common inborn endocrine disorders, some patients are not identified, or may even die, in an acute salt-losing crisis. In a retrospective study covering the last 30 yr, we examined the time elapsing before diagnosis of CAH patients, in 5 Middle European countries, and the mortality rate in diagnosed patients and their siblings during childhood; we also attempted to estimate how many patients are not diagnosed clinically each year. Basic and follow-up clinical data and the family histories of 484 patients with classical forms of CAH diagnosed between 1969 and 1998 were collected and recorded in 5 Middle European countries. The sex-ratio, time elapsing before diagnosis, and mortality among siblings and patients were calculated, and the number of undiagnosed patients was estimated. We found significantly fewer genetic males (43.0%) than females (57.0%) among 484 classic CAH patients, and the percentage of diagnosed boys did not increase with time; 64.7% of them suffered from the salt-wasting (SW) form, and 35.3% from the simple virilizing (SV) form, of the disease. The diagnosis of CAH was established significantly later in males than in females in both forms [SW: 26 vs. 13 days (median), P < 0.0001; SV: 5.0 vs. 2.8 yr, P = 0.03]. Infant mortality in the general population was significantly lower than in either siblings (1.8% vs. 7.0%; P < 0.0001) or in SW (2.29% vs. 11.3%; P < 0.0001). According to our calculations, by our current praxis of clinical ascertainment, 2-2.5 SW and up to 5 SV stay undiagnosed, out of 40 expected CAH patients per year in the countries investigated. Both clinical detection and treatment of CAH patients, at least in males, were insufficient in the five Middle European countries examined during the last 30 yr. Neonatal mass screening and/or greater awareness of the medical community are discussed as ways of improving the efficacy of CAH management. Our experience may be applicable to other countries with similar health care systems.

Adrenal Hyperplasia, Congenital↗
PubMed2000

Correlation of blood-spot 17-hydroxyprogesterone daily profiles and urinary steroid profiles in congenital adrenal hyperplasia.

OBJECTIVE: To compare the value of blood-spot 17-hydroxyprogesterone (17-OHP) daily profiles and urinary steroid excretion in untreated and treated patients with congenital adrenal hyperplasia (CAH). PATIENTS: Ten patients with CAH were investigated during steroid replacement therapy (Group 1), and 11 patients were investigated without treatment (Group 2). METHODS: Capillary blood samples were collected for measurement of blood-spot 17-OHP values by non-chromatographic radioimmunoassay. Steroid profiles of 24-h urine samples were analyzed by gas chromatography. RESULTS: There was a close correlation between the individual daily means of blood-spot 17-OHP measurements and the pregnanetriol/ tetrahydrocortisone ratio in both groups of patients (Group 2: r=0.839, p<0.001; Group 1: r=0.686, p<0.001). Almost the same correlation was found between the blood-spot 17-OHP value and the sum of three 17-hydroxyprogesterone metabolites/the sum of three cortisol/cortisone metabolites ratio (Group 2: r=0.918, p<0.001; Group 1: r=0.741, p<0.001). CONCLUSIONS: Blood-spot 17-OHP measurements and 24-h urinary steroid profile have the same impact in identification and monitoring therapy of children with CAH.

17-alpha-Hydroxyprogesterone↗
PubMed1999

[Presence of antibodies to human herpesvirus type 6 and 7 in Hungarian children].

Prevalence of antibodies to variants HHV-6A and B as well as HHV-7, the time of primary infections are not know in Hungarian children. Therefore, antibodies to these viruses were studied in 21 healthy children aged between 6 and 18 months. Lymphoid cultures were infected with standard virus strains for indirect immunofluorescence. IgM, IgG and high avidity IgG after 8M urea treatment were quantified in serial dilutions of sera. It was established that, three of 13 boys had low level (1:20) IgG or IgM antibodies to HHV-6A, but all girls were negative. With exception of one girl and one boy, all had antibodies to HHV-6B in different titres (1:20 to 1:640 by immunofluorescence), in 9 cases only IgM, in further 4 cases only low avidity IgG were detected. Children studied gradually acquired symptom-free HHV-6B infection between age of 8 and 18 months. Antibodies to HHV-7 were found in 3 boys and one girl before their age of 12 months, but the majority were infected after that age. Approximately three quarters of children acquired either HHV-6B or HHV-7 before age of 18 months. More than half of the children were infected with HHV-6B prior to HHV-7. Antibody level to HHV-6B was slightly higher in boys, while that to HHV-7 was higher in girls. In Hungary, childhood infection with HHV-6A seems to be a very rare event. Epidemiology of HHV-6B primary infection is similar to that of industrial countries, while that of HHV-7 resembles data of developing world: onset of antibodies occurs 1 or 2 years earlier than in the industrial nations.

Antibodies, Viral↗
PubMed1999

Serum osteocalcin and insulin-like growth factor I levels in children with congenital adrenal hyperplasia.

Patients with the virilizing forms of congenital adrenal hyperplasia (CAH) need a life-long glucocorticoid replacement therapy and also an additional mineralocorticoid replacement in cases with the salt-wasting form of the disease. Glucocorticoids are reported to decrease the serum osteocalcin levels and to inhibit the effects of insulin-like growth factor I (IGF-I). To collect data on the age related patterns of osteocalcin and IGF-I production in patients with CAH, measurements of these compounds have been carried out in a considerably large sample of treated CAH patients and control subjects in childhood and adolescence. Data of 62 patients between 0. 3-19 years of age were compared to the data of 188 control children. Osteocalcin and IGF-I were determined by radioimmunoassay. A lower than normal level of serum osteocalcin was found in both male and female patients at chronological ages above 11.6 and 9.6 years, respectively. Furthermore, no pubertal osteocalcin peak could be seen when data were evaluated according to the bone age. Serum IGF-I levels were higher in male CAH patients at the chronological age of 0.3-15.5 years and in female patients at the chronological age of 4. 6-9.5 years. In pubertal years serum IGF-I concentrations were lower in CAH patients when data were evaluated according to the bone age. We conclude that serum osteocalcin is decreased during and after puberty in CAH patients on replacement doses of glucocorticoids. Normal to elevated serum levels of IGF-I in treated CAH cases suggest that the shorter final height of these patients may not be due to the decreased activity in the growth hormoneIGF-I axis, but rather to the advanced bone maturation and the premature epiphyseal fusion.

Adolescent↗
PubMed1999

Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens. The most common enzyme defect causing CAH is steroid 21-hydroxylase deficiency. To determine the mutational spectrum in the Hungarian CAH population, the CYP21 active gene was analyzed using PCR. A total of 297 Hungarian patients with 21-hydroxylase deficiency are registered in the 2nd Department of Pediatrics, Budapest, Hungary, and their clinical status was evaluated. Blood samples for CYP21 genotype determination could be obtained from 167 patients (representing 306 unrelated chromosomes and 56.2% of the total group of patients). Eight of the most common mutations were screened [In2 (intron 2 splice mutation), I172N, Del (Del: apparents large gene conversion), Q318X, R356W, 1761Tins, ClusterE6, V281L] using allele-specific amplification. The most frequent mutation in the Hungarian CAH population was found to be In2. Our results have shown a good genotype/phenotype correlation in case of most mutations; the In2 mutation is associated mostly with the severe form of the disease, whereas I172N was expressed in a wide spectrum of phenotypes. 1999)

Adrenal Hyperplasia, Congenital↗
PubMed1998

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

UNLABELLED: Two boys presenting with infection-triggered, life-threatening salt-loss and hyperkalaemia were published in 1991 in the European Journal of Pediatrics. In both boys, the diagnosis of corticosterone methyl oxidase (CMO) deficiency type II has been established on the basis of determinations of plasma and urinary steroids. We had the opportunity to perform a molecular genetic study in one of the two boys. This boy had an elevated plasma 18-hydroxycorticosterone/aldosterone ratio which is pathognomonic for CMO deficiency type II. Sequence analysis of the CYP11B2 gene revealed a homozygous single base exchange in codon 185 of CYP11B2 causing an amino acid substitution Thr185Ile. CONCLUSION: A Thr185Ile mutation in the CYP11B2 gene was found in a patient with CMO deficiency type II. This mutation may change the secondary structure of the enzyme leading to its decreased activity.

Amino Acid Substitution↗
PubMed1997

[Androgen-producing adrenocortical adenoma in childhood. Pitfalls of differential diagnosis].

A two-year-old girl presented with clitoromegaly and an abdominal mass. Diagnostic procedures including sonography, computerized tomography, scintigraphy and measurement of catecholamines in urine excluded neuroblastoma, but suspected Wilms-tumor. Before completing the steroid measurements therapy was initiated according to Wilms-tumor (preoperative cytostatic therapy followed by surgical removal of the tumor). Morphology of the tumor, the serum and urinary steroid profile proved a benign adrenocortical adenoma producing mainly delta 5-steroids including the weak androgen, dehydroepiandrosterone.

Adenoma↗
PubMed1997

[Adrenoleukodystrophy].

7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved. Therapeutic regime of Lorenzo's oil has been introduced to the young brother, and the question of bone marrow transplantation is discussed.

Adrenoleukodystrophy↗
PubMed1997

Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13.

A de novo apparently balanced translocation involving chromosomes 8 and 20 was found in a 14-year-old boy with minor anomalies, mild skeletal abnormalities and ambiguous external genitalia including perineoscrotal hypospadias, rudimentary fused labioscrotal folds, bilateral cryptorchidism, and small penis. The karyotype was 46,XY, t(8;20)(q22.3-23;p13). No signs of other conditions known to be associated with structural anomalies of either chromosome 8 or 20 were present and incomplete masculinisation of the external genitalia appears to be the main component of the phenotype. Clinical and biological studies showed apparently normal testicular function in utero and after birth. Examinations excluded 5 alpha-reductase deficiency or a block in any enzymatic steps of testosterone, glucocorticoid and mineralocorticoid biosynthesis. Coding sequences of the sex-determining gene (SRY) and androgen receptor gene (AR) were found to be identical to those of a normal male excluding their role in the cause of the present condition. Since several other reports describe the association of hypospadias and hypertelorism with deletions or translocations involving 8q, we suggest that a locus necessary for male sex differentiation is located at distal 8q.

Abnormalities, Multiple↗
PubMed1996

[17 beta-hydroxysteroid dehydrogenase defect: female phenotype with 46,XY karyotype].

Deficiency of the 17 beta-hydroxysteroid dehydrogenase (17b-HSD-d) causes female external genital phenotype in spite of 46,XY karyotype and presence of testes due to disorder in biosynthesis of testosterone. However, marked somatic and genital virilization occurs during puberty. Clinical and laboratory investigation of three cases are presented with typical elevation of the precursor steroid androstenedione, and decrease of product steroid testosterone. All the three patients were reared as girls. During puberty orchidectomy was performed in two cases and vaginoplasty in one case. Estrogen replacement therapy contributed to development of female secondary sex characteristics.

17-Hydroxysteroid Dehydrogenases↗
PubMed1995

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.

A case of a true hermaphrodite presenting with a karyotype of 46,X,del(X)(p21.1-->pter) is described. The testis-determining gene, SRY, was not detected in DNA prepared from either peripheral blood lymphocytes or from a gonad biopsy. The patient also presented with a series of discrete somatic abnormalities, including abnormal skin and retinal pigmentation, and mental retardation. The extent of the Xp deletion was mapped by Southern blotting. X chromosome replication studies of lymphoblast cells prepared from the patient indicated that the deleted X chromosome was inactivated in all cells examined. It is suggested that the phenotype of the patient is caused by the unmasking of a recessive allele(s) on the grossly intact X chromosome. The relationship between the Xp deletion, the intersex phenotype, and the possible role of an Xp locus involved in human sex determination is discussed.

Child↗
PubMed1995

Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency.

To obtain data on the correlation of serum and urinary steroids in nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency, 9 girls with precocious pubarche and 33 adolescent girls with mild to severe hirsutism were studied. Urinary steroid profiles were analyzed by capillary gas chromatography. Serum 17-OH-pregnenolone (17-OHPreg) and 17-OH-progesterone (17-OHP) were determined by RIA after column-chromatographic separation. One out of 9 girls with precocious pubarche and 4/33 girls with hirsutism had elevated ratios of 17-OHPreg to 17-OHP after ACTH stimulation in serum and elevated urinary excretion of 5-ene steroids under basal conditions. These patients were defined to have decreased adrenal 3 beta-HSD activity. Basal and ACTH-stimulated serum 17-OHPreg levels in patients with mild 3 beta-HSD deficiency overlapped those of healthy controls and peripubertally virilized female patients without enzyme deficiency. Post-ACTH 17-OHPreg/17-OHP ratios in serum discriminated patients with and without 3 beta-HSD deficiency using a cutoff value of 13 instead of mean + 2 SD for age-related control values (6.7 and 11.6 for girls with Tanner stage II-III and IV-V, respectively). Sums of urinary 5-ene steroids in patients with 3 beta-HSD deficiency overlapped those in patients without enzyme deficiency. Results showed that an abnormal post-ACTH serum 17-OHPreg/17-OHP ratio may not be associated with elevated urinary 5-ene steroid excretion, and vica versa. In conclusion, patients with simultaneous elevation of post-ACTH serum 17-OHPreg/17-OHP ratio and basal urinary 5-ene steroid excretion are supposed to have mild 3 beta-HSD deficiency.

17-alpha-Hydroxyprogesterone↗
PubMed1995

Identification of enzyme deficiencies resulting in congenital adrenal hyperplasia.

Selective screening for congenital adrenal hyperplasia (CAH) by blood spot 17-hydroxyprogesterone measurements is a practical option than can yield valuable clinical information and more accurate estimate of incidence. Simultaneous investigation of serum and urinary steroids allows detection of late-onset types of CAH.

17-alpha-Hydroxypregnenolone↗