Y-chromosome markers in Turner syndrome: Screening of 130 patients.

BACKGROUND: The presence of Y-chromosome material in patients with Turner syndrome (TS) is a risk factor for the development of gonadoblastoma. Cytogenetic analysis detects Y-chromosome mosaicism in about 5% of Turner patients. However, if Y-chromosome sequences are present in only a few cells, they may be missed by routine analysis. The use of molecular techniques to detect the presence of Y-chromosome fragments in such patients is becoming increasingly important. AIM: The objective of our study was to analyze cryptic Y-chromosome derivatives in Hungarian TS patient population by real-time PCR (RT-PCR). SUBJECTS AND METHODS: Cytogenetic and RT-PCR methods were used to examine peripheral blood DNA of 130 Hungarian patients with TS for the presence of Y-chromosome. With RT-PCR, 4 regions throughout the Y-chromosome were analyzed. RESULTS: Initial cytogenetic karyotyping assessing 10-50 metaphases revealed 3 patients with Y-chromosome positivity. RT-PCR revealed further 6 patients with Y-chromosome, who were initially considered as Y-negatives by standard kayotyping. The consecutive cytogenetic analysis of a large number (about 100) of metaphases (in 5 patients) and/or FISH (in 6 patients) however, also confirmed the presence of the Y-chromosome in these patients. Prophylactic gonadectomy was carried out in all 9 patients and 1 of them was diagnosed as having bilateral gonadoblastoma without clinical symptoms. CONCLUSIONS: We recommend a routine molecular screening for hidden Y-chromosome sequences in Turner patients, who are negative for Y-chromosome by conventional cytogenetic analysis, in order to calculate the future risk of developing gonadoblastoma.

[Precocious puberty caused by a testicular Leydig cell tumor]. / Korai nemi érést okozó here Leydig-sejttumor.

Testicular tumors are very rare in boys, approximately 1.5% of these are Leydig cell tumors. The authors present a 4.5 year-old boy with Leydig cell tumor of left testis, which was associated with increased sex steroid production that caused precocious puberty. These tumors are benign processes in prepubertal children. Beyond the rarity of this case the authors would like to report about its diagnostic difficulties and testis-sparing remove of it. The plasma 17-hydroxyprogesterone levels provide the distinction between congenital adrenal hyperplasia and Leydig cell tumor in patient with precocious puberty.

[Glucose metabolism and insulin sensitivity in patients with Turner syndrome treated with growth hormone]. / A glükózanyagcsere és inzulinszenzitivitás vizsgálata a növekedési hormonkezelt Turner-szindrómás betegeknél.

The authors investigated the effect of growth hormone treatment on 20 Turner syndrome patients. The aim was to assess glucose and insulin responses to oral glucose loading in 9 prepubertal and 11 pubertal patients with Turner syndrome. Thirty eight healthy subjects matched for chronological age and BMI were selected as controls. Similar glucose responses were observed in the prepubertal and postpubertal patients groups and no difference was found between patients and controls. No correlation was observed between glycaemic control of insulin sensitivity and growth hormone treatment. Although the supraphysiological doses of growth hormone did not result in substantial impairement in glucose tolerance, it is concluded that hyperinsulinaemia could be a consequence of the treatment and regular check up for glycaemic control is needed in these patients.

[A case of neonatal 49,XXXXY syndrome]. / 49,XXXXY syndroma újszülöttkori esete.

The authors present the case of 49,XXXXY syndrome diagnosed in neonatal age. During the investigation of ambiguous genitalia was identified sex chromosome anomaly. The authors deal with possible pathogenesis of the syndrome and its clinical symptoms in details. They emphasize the importance of both testosterone substitution with pubertal timing, and early intellectual and social development.

[Final body height affecting factors in Turner syndrome]. / Végmagasságot befolyásoló tényezök vizsgálata Turner-szindrómában.

The treatment with growth hormone of girls with Turner syndrome can only be improved further if the factors promoting growth are identified and the treatment is adjusted to the patient's special needs. From among these factors the authors have examined the correlation of age, bone age, target height and height SDS existing at the beginning of the treatment on the one hand, and the projected final height determined at the beginning of the treatment on the other. Relationship of data were determined with linear regression analysis. According to the recent scientific literature early initiation and correct dosage of growth hormone treatment is emphasized.

[Possibilities to increase the efficacy of growth hormone therapy in Turner syndrome]. / Lehetöség a Turner-szindrómában alkalmazott növekedési hormonkezelés hatékonyságának fokozására.

The authors gave an account of the results of the first two years treatment of Turner's syndrome with growth hormone. They used the international reference standards to evaluate the treatment aimed at promoting the growth of girls having Turner's syndrome. The applied the projected final height method to predict height. Their results proved that their treatment which improved growth had favourably accelerated height velocity and increased the projected final height, which they hoped to lead to adult final height. They dealt with the trend of costs/benefit rate of treatment which improved the growth in children with Turner syndrome and on its basis they emphasized the importance of individual treatment. The continuous control of growth hormone treatment not only purported to the improvement of the efficiency of the therapy but also makes possible to avoid raising exaggerated expectations in the parents.

Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization.

We investigated the value of serum levels of adrenal steroids (dehydroepiandrosterone sulphate, testosterone, 17-hydroxyprogesterone, cortisol) in the identification in peripubertal females with late-onset congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Among 68 females (age 3-18 years) with virilization in childhood, peripubertally or postpubertally, we selected 21 girls for an ACTH test by measurement of basal blood-spot or serum 17-hydroxyprogesterone (17-OHP) levels. Eight of 21 patients had supranormal post-ACTH serum 17-OHP concentration (57-153 nmol/l) with low normal cortisol concentration. All of them had supranormal basal and post-ACTH 17-OHP to cortisol ratios. These data show a relatively high incidence (about 12%) of mild 21-hydroxylase deficiency among prepubertal and adolescent girls with virilization. It is concluded that the first step in the investigation of peripubertally virilized girls should be the determination of serum 17-OHP and cortisol. Patients with basal morning 17-OHP concentration and 17-OHP to cortisol ratio above reference range should be given an ACTH test.