INTRODUCTION:Polycystic ovary syndrome is associated with metabolic abnormalities, such as dyslipidemia, obesity, glucose intolerance, which are also components of the metabolic syndrome. Central obesity and insulin resistance appear to play an important role in the pathogenesis of polycystic ovary syndrome, perhaps via subsequent steroidogenic dysregulation.AIM:The aim of the authors was to assess metabolic and hormonal abnormalities in adolescent girls with polycystic ovary syndrome.METHOD:The study included 52 adolescents diagnosed with polycystic ovary syndrome based on the Rotterdam criteria. Anthropometric, hormonal and metabolic parameters were evaluated among all subjects. 20 healthy, age-matched, non-obese, regularly menstruating girls were used as controls. Of the 52 patients, 15 patients were born with low-birth-weight and 37 patients were born with normal birth weight. Oral glucose tolerance test was performed in all patients and controls. The age of patients was 16.8±3.1 years, and the age of controls was 16.95±2.1 years.RESULTS:Among patients with polycystic ovary syndrome the prevalence of overweight and obesity was 35% (n = 18), while impaired fasting glucose occurred in one patient, impaired glucose tolerance in 8 patients, insulin resistance in 25 patients and metabolic syndrome in 12 patients. Serum triglyceride levels in patients and controls were 1.4±0.8 and 0.9±0.3 mmol/l, respectively (p<0.05), while fasting blood glucose, total cholesterol, HDL and LDL cholesterol were not different in the two groups. Metabolic abnormalities and obesity were more severe and more frequent in patients with low-birth-weight compared to those born with normal weight. There was a negative correlation between birth weight and body mass index SDS values and a positive correlation between fasting insulin levels and body mass index SDS (r = 0.37) in patients born with low-birth-weight.CONCLUSIONS:Abnormal glucose metabolism is frequently present in adolescents with polycystic ovary syndrome. It is possible that early diagnosis of polycystic ovary syndrome in adolescence may prevent some of the long-term complications associated with this syndrome.

Bevezetes: A polycystas ovarium szindromahoz metabolikus rendellenessegek tarsulnak (dyslipidaemia, elhizas, glukozintolerancia), amelyek a metabolikus szindromanak is osszetevői. A centralis elhizas es az inzulinrezisztencia ugy tűnik, hogy fontos szerepet jatszik a polycystas ovarium szindroma patogeneziseben, talan a kovetkezmenyes szteroidogenezis diszregulacioja miatt. Celkitűzes: A metabolikus es hormonalis rendellenessegek felmerese a polycystas ovarium szindromas serdulőkoru leanyoknal. Modszer: 52, polycystas ovarium szindromaban szenvedő serdulőt a rotterdami kriteriumok alapjan diagnosztizaltak. Antropometriai, hormonalis es metabolikus parametereket ertekeltek valamennyi szemelynel. Kontrollkent 20 egeszseges, azonos eletkoru, nem elhizott, szabalyosan menstrualo leanyok adatait hasznaltak. Az 52 beteg kozott a kis sullyal szuletettek szama 15, az erett sullyal szuletettek szama 37 volt. Minden betegnel es kontrollszemelynel oralis glukoztolerancia-tesztet vegeztek. A betegek eletkora 16,8±3,1 ev, a kontrollok eletkora 16,95±2,1 ev volt. Eredmenyek: A szerzők vizsgalatai alapjan a tulsuly es elhizas prevalenciaja a polycystas ovarium szindromaban szenvedő serdulőknel 35% volt (18 szemely). A betegeknel emelkedett ehomi vercukor egy esetben, csokkent glukoztolerancia nyolc esetben, inzulinrezisztencia 25 esetben es metabolikus szindroma 12 esetben fordult elő. A szerumtriglicerid-szint a betegek koreben 1,4±0,8 mmol/l, a kontrollcsoportban 0,9±0,3 mmol/l volt (szignifikans kulonbseg.) Az ehomi vercukor-, teljeskoleszterin-, HDL- es LDL-koleszterin-ertekek kozott nem talaltak szignifikans kulonbseget. A kis sullyal szuletettek csoportjaban a metabolikus zavarok es elhizas sulyosabb volt es gyakrabban fordult elő, mint a normalis sullyal szuletettek csoportjaban. A kis sullyal szuletettek csoportjaban a szuletesi suly es a testtomegindex SDS-ertekek kozott negativ (r = –0,67) szignifikans, mig az ehomi inzulinszintek es a testtomegindex SDS-ertekek kozott pozitiv (r = 0,37) szignifikans osszefuggest talaltak. Kovetkeztetesek: A szenhidratanyagcsere-zavarok gyakoriak polycystas ovarium szindromaban szenvedő serdulők koreben. A serdulőkori polycystas ovarium szindroma korai diagnozisa megelőzheti a szindromahoz kapcsolodo nehany hosszu tavu komplikaciot. Orv. Hetil., 2013, 154, 1226–1234. | Introduction: Polycystic ovary syndrome is associated with metabolic abnormalities, such as dyslipidemia, obesity, glucose intolerance, which are also components of the metabolic syndrome. Central obesity and insulin resistance appear to play an important role in the pathogenesis of polycystic ovary syndrome, perhaps via subsequent steroidogenic dysregulation. Aim: The aim of the authors was to assess metabolic and hormonal abnormalities in adolescent girls with polycystic ovary syndrome. Method: The study included 52 adolescents diagnosed with polycystic ovary syndrome based on the Rotterdam criteria. Anthropometric, hormonal and metabolic parameters were evaluated among all subjects. 20 healthy, age-matched, non-obese, regularly menstruating girls were used as controls. Of the 52 patients, 15 patients were born with low-birth-weight and 37 patients were born with normal birth weight. Oral glucose tolerance test was performed in all patients and controls. The age of patients was 16.8±3.1 years, and the age of controls was 16.95±2.1 years. Results: Among patients with polycystic ovary syndrome the prevalence of overweight and obesity was 35% (n = 18), while impaired fasting glucose occurred in one patient, impaired glucose tolerance in 8 patients, insulin resistance in 25 patients and metabolic syndrome in 12 patients. Serum triglyceride levels in patients and controls were 1.4±0.8 and 0.9±0.3 mmol/l, respectively (p<0.05), while fasting blood glucose, total cholesterol, HDL and LDL cholesterol were not different in the two groups. Metabolic abnormalities and obesity were more severe and more frequent in patients with low-birth-weight compared to those born with normal weight. There was a negative correlation between birth weight and body mass index SDS values and a positive correlation between fasting insulin levels and body mass index SDS (r = 0.37) in patients born with low-birth-weight. Conclusions: Abnormal glucose metabolism is frequently present in adolescents with polycystic ovary syndrome. It is possible that early diagnosis of polycystic ovary syndrome in adolescences may prevent some of the long-term complications associated with this syndrome. Orv. Hetil., 2013, 154, 1226–1234.

The aim of the authors is to present two cases which raise the possibility of an association between polycystic ovarian syndrome/hyperandrogenism and ovarian cyst torsion in peripubertal girls. Androgen excess may cause more frequently ovarian cyst formation in premenarcheal or young adolescents with undiagnosed polycystic ovarian syndrome than in adults. The authors recommend that polycystic ovarian syndrome as wel as late onset congenital adrenal hyperplasia should be considered in peripubertal adolescents with ovarian cyst torsion. In case polycystic ovarian syndrome is confirmed, adequate management according to age and pubertal development of the patients should be commenced. Orv. Hetil., 2013, 154, 113–117.

A szerzők celja, hogy ket esetuk kapcsan felhivjak a figyelmet a polycystas ovarium szindroma, illetve hyperandrogenismus es a petefeszekciszta-torzio kozotti osszefuggesre peripubertalis koru leanyoknal. Praemenarche-korban, illetve fiatal serdulőkben az androgentulsullyal jaro polycystas ovarium szindroma gyakrabban okozhat petefeszekciszta-kepződest, mint felnőttkorban. A szerzők javasoljak, hogy peripubertas koru serdulőknel petefeszekciszta-torzio eseten ki kell zarni a polycystas ovarium szindroma es kesői tipusu congenitalis adrenalis hyperplasia lehetőseget. Polycystas ovarium szindroma igazolasa eseten a beteg koranak es a pubertas fejlődesenek megfelelő kezelest el kell kezdeni. Orv. Hetil., 2013, 154, 113–117. | The aim of the authors is to present two cases which raise the possibility of an association between polycystic ovarian syndrome/hyperandrogenism and ovarian cyst torsion in peripubertal girls. Androgen excess may cause more frequently ovarian cyst formation in premenarcheal or young adolescents with undiagnosed polycystic ovarian syndrome than in adults. The authors recommend that polycystic ovarian syndrome as wel as late onset congenital adrenal hyperplasia should be considered in peripubertal adolescents with ovarian cyst torsion. In case polycystic ovarian syndrome is confirmed, adequate management according to age and pubertal development of the patients should be commenced. Orv. Hetil., 2013, 154, 113–117.

It has been proven for more than two decades that gonadotropin releasing hormone analogue therapy is the only choice of treatment in patients with central precocious puberty. Aims: The aim of the authors was to assess the effect of gonadotropin releasing hormone analogue treatment on final height, body mass index, bone mineral density and ovarian function in girls with idiopathic central precocious puberty. Methods: Predicted adult height, target height and achieved height due to therapy was assessed in 15 girls with idiopathic precocious puberty treated with gonadotropin releasing hormone analogue. At the beginning of the treatment, the age of the girls was 7.0±0.8 years (mean±SD) and at the end of the treatment 12±0.8 years. The duration of gonadotropin-releasing hormone analogue treatment was 4.48±0.8 years. At the time of achieving final height, the age of the patients was 18.2±2.0 years and the height was 160.4±7.1 cm. When final height was reached, the authors evaluated bone mineral density Z-score values, levels of bone markers and the function of the hypothalamic-pituitary-gonadal axis. 15 healthy prepubertal girls, 15 pubertal girls and 15 girls who reached final height matched for chronological age were selected as control groups. Results: The majority of the gonadotropin releasing hormone-treated girls reached or almost reached their expected height predicted on the basis of the heights of their parents, but the therapy resulted only in a modest beneficial effect on height gain. Despite the fact that the body weight of patients increased during the treatment, there was no significant difference in their body mass index when they reached their final height as compared to controls. As compared to controls, patients had a decreased bone mineral density at the time when they reached their final height (lumbar spine 2-4 Z score, –0.27±1.2 vs. 0.5±0.7 in controls; p = 0.0377), which could be explained by their overweight that already existed before treatment, lack of exercise and poor calcium uptake. Their menarche occurred 12±4.6 months after discontining the treatment. Conclusions: Gonadotropin releasing hormone analogue therapy exerts a modest beneficial effect on final height gain. There are no detrimental effects on body mass index, bone mineral density and ovarian function after treatment. Side-effects are of minor severity and they are tolerable. Orv. Hetil., 2012, 153, 418–424.

A szerzők 46,XY tiszta gonaddiszgenezis (Swyer-szindroma) esetuk kortortenetet mutatjak be. A Swyer-szindroma jellemzői a 46,XY karyotypus, primer amenorrhoea, női belső nemi szervek, ketoldali csikgonad es a női fenotipus. A szindroma szamos jol ismert gen mutaciojaval all osszefuggesben, amelyek szerepet jatszanak a heredifferencialodas kaszkadjaban. SRY-genmutacio csak 10–15%-ban fordul elő, az esetek tobbsegeben a nemi differencialodasban szerepet jatszo mas genek hibai okozzak a korkepet. Esetbemutatas: A 16 eves leany primer amenorrhoea miatt kereste fel az endokrinologiai reszleget. Fizikalis vizsgalattal női fenotipust eszleltek, magassaga 166 cm, testsulya 56,5 kg volt, az emlők es a genitalis szőrzet fejlődese Tanner-I., illetve -II. stadiumnak felelt meg. A kulső nemi szervei női tipusuak voltak. Kismedencei MRI hypoplasias uterust es mindket oldalon 5×10 mm meretű petefeszket mutatott ki. A kromoszomavizsgalat 46,XY karyotypust igazolt. Az SRY es SF1 genek vizsgalata nem bizonyitott mutaciot vagy deletiot. A szerum folliculusstimulalo hormon es a luteinizalo hormon koncentracioi emelkedettek voltak. A szerumtumormarker-vizsgalat nem mutatott ki koros elterest. A diagnozis megallapitasa utan profilaktikus gonadectomiat vegeztek, a szovettani vizsgalat ketoldali csikgonadot igazolt. A műtet utan bevezetett hormonpotlo kezelesre a szekunder nemi jelek fejlődesnek indultak, es 1,5 ev mulva menarche jelentkezett. Kovetkeztetesek: A szerzők hangsulyozzak, hogy serdulőkorban primer amenorrhoea eseten mindig el kell vegezni a karyotypus-vizsgalatot. A diagnozis megallapitasa utan a diszgenetikus gonadok eltavolitasa javasolt a malignus elfajulas veszelye miatt. Orv. Hetil., 2010, 48, 1991–1995. | The authors report a rare case of pure 46,XY gonadal dysgenesis (Swyer syndrome). Swyer syndrome is associated with 46,XY karyotype, primary amenorrhea as well as the presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The genetic background of this syndrome includes mutations of several genes involved in the testis differentiation cascade. Mutation of the SRY gene accounts for only 10–15% of all 46,XY gonadal dysgenesis cases while the majority cases may be linked to other deficient genes involved in the sex differentiation pathway. The patient was a 16-year-old female who was referred for endocrinological evaluation because of primary amenorrhea. Physical examination revealed a phenotypic female, height 166 cm, weight: 56.5 kg, breast and pubic hair development were Tanner I. and II, respectively. She had female external genitalia. Pelvic magnetic resonance imaging showed a hypoplastic uterus and ovaries at both sides measuring 5×10 mm in size. Chromosomal analysis revealed 46,XY karyotype. Analysis of the SRY and SF1 genes showed no mutations. Serum follicle-stimulating hormone and luteinizing hormone were elevated. Serum tumor marker concentrations were normal. Prophylactic bilateral gonadectomy was performed and histological examination showed bilateral streak gonads. Hormone replacement therapy produced development of secondary sexual characters and 1.5 years after treatment the patient had menarche. Authors conclude that karyotype analysis should be performed in adolescent with primary amenorrhea. After establishment of the diagnosis, dysgenetic gonads should be removed because of the high risk of gonadal neoplasia. Orv. Hetil., 2010, 48, 1991–1995.

The authors report a rare case of pure 46,XY gonadal dysgenesis (Swyer syndrome). Swyer syndrome is associated with 46,XY karyotype, primary amenorrhea as well as the presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The genetic background of this syndrome includes mutations of several genes involved in the testis differentiation cascade. Mutation of the SRY gene accounts for only 10-15% of all 46,XY gonadal dysgenesis cases while the majority cases may be linked to other deficient genes involved in the sex differentiation pathway. The patient was a 16-year-old female who was referred for endocrinological evaluation because of primary amenorrhea. Physical examination revealed a phenotypic female, height 166 cm, weight: 56.5 kg, breast and pubic hair development were Tanner I. and II, respectively. She had female external genitalia. Pelvic magnetic resonance imaging showed a hypoplastic uterus and ovaries at both sides measuring 5×10 mm in size. Chromosomal analysis revealed 46,XY karyotype. Analysis of the SRY and SF1 genes showed no mutations. Serum follicle-stimulating hormone and luteinizing hormone were elevated. Serum tumor marker concentrations were normal. Prophylactic bilateral gonadectomy was performed and histological examination showed bilateral streak gonads. Hormone replacement therapy produced development of secondary sexual characters and 1.5 years after treatment the patient had menarche. Authors conclude that karyotype analysis should be performed in adolescent with primary amenorrhea. After establishment of the diagnosis, dysgenetic gonads should be removed because of the high risk of gonadal neoplasia.

Precocious adrenarche is defined as the development of pubic hair before the age of 8 years in girls and 9 years in boys. Pubarche caused premature adrenarche in girls has been considered as a normal variant of pubertal development for years. Recently, it is cleared that premature pubarche can be considered as a marker of increased risk for endocrine and metabolic abnormalities. Precocious adrenarche in affected girls is associated with hyperinsulinaemia and functional ovarian hyperandrogenism during puberty. Authors investigated serum levels of insulin-like growth factor-I (IGF-I), insulin-like growth factor-binding protein-1 (IGFBP-1), insulin-like growth factor-binding protein-3 (IGFBP-3), sex hormone binding-globulin (SHBG) and levels of insulin during oral glucose tolerance test in 34 girls with premature adrenarche in 38 age- and BMI-matched healthy controls. Affected girls were assigned into prepubertal and pubertal subgroups. It has been shown that hyperinsulinaemia, decrease in IGFBP-1 and increase IGF-I levels may be present in some affected prepubertal patients. In the pubertal group, in addition to hyprinsulinaemia, decreased IGFBP-1 and increased IGF-I levels an attenuated SHBG level was observed. According to the authors, these laboratory parameters may predict endocrine and metabolic abnormalities in later life. The observed correlations support the hypothesis that insulin/IGF system plays role in the pathogenesis of hyperandrogenism in premature adrenarche and in later hormonal and metabolic changes.