Klinefelter syndrome and mediastinal germ cell tumors. 2006

Thomas M K Völkl, and Thorsten Langer, and Thomas Aigner, and Holger Greess, and Jörn D Beck, and Anita M Rauch, and Helmuth G Dörr
Hospital for Children and Adolescents, Friedrich-Alexander-University of Erlangen-Nuremberg, Erlangen, Germany.

Precocious puberty is not a typical manifestation of patients with Klinefelter syndrome (KS). However, there is an increased incidence of mediastinal germ cell tumors (M-GCT) in KS, whereas the discussion of a generally higher tumor risk in this condition is still controversial. A rare subgroup of KS patients consists of prepubertal children with precocious puberty due to human chorionic gonadotropin (hCG)-producing M-GCTs. We present clinical data on a boy with KS and sexual precocity, and summarize the published data on 12 boys with KS out of 54 cases of KS and M-GCT. METHODS an 8.5-year-old boy presented with signs of precocious puberty. Laboratory analyses (suppressed gonadotropins, elevated testosterone) and thoracic CT demonstrated a beta-human chorionic gonadotropin (beta-hCG) and alpha(1)-feto protein (alpha-FP) secreting mediastinal tumor. Histological analysis showed a mixed germ cell tumor comprising choriocarcinoma (CH), embryonal carcinoma (EC), mature teratoma (MT), and yolk sac tumor (YS). He was successfully treated by surgery and adjuvant chemotherapy. Epianalysis of published cases: all KS patients (n = 12), age 4-9 years, presented with precocious sexual development (PP), whereas the older ones showed thorax-associated symptoms, mainly chest pain, dyspnea, and cough. The histological distribution was also age-dependent with mixed germ cell tumors predominantly in younger patients. Thus, M-GCTs are strongly associated with precocious puberty in young boys with KS. Therefore, a karyotype analysis should be included in the clinical work-up of boys with precocious puberty and M-GCT. There is still no convincing explanation for the association of M-GCTs and KS.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D007713 Klinefelter Syndrome A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.). 48,XXYY Syndrome,49,XXXXY Syndrome,Klinefelter Syndrome, Variants,Klinefelter's Syndrome,XXXY Males,XXY Syndrome,XXY Trisomy,Xxyy Syndrome,Klinefelter Syndromes,Klinefelter Syndromes, Variants,Klinefelters Syndrome,Syndrome, Klinefelter,Syndrome, Klinefelter's,Syndrome, Variants Klinefelter,Syndrome, XXY,Syndrome, Xxyy,Syndromes, Klinefelter,Syndromes, Variants Klinefelter,Syndromes, XXY,Syndromes, Xxyy,Trisomies, XXY,Trisomy, XXY,XXXY Male,XXY Syndromes,XXY Trisomies,Xxyy Syndromes
D008297 Male Males
D008479 Mediastinal Neoplasms Tumors or cancer of the MEDIASTINUM. Cancer of Mediastinum,Mediastinal Cancer,Cancer of the Mediastinum,Mediastinum Cancer,Mediastinum Neoplasms,Neoplasms, Mediastinal,Cancer, Mediastinal,Cancer, Mediastinum,Cancers, Mediastinal,Cancers, Mediastinum,Mediastinal Cancers,Mediastinal Neoplasm,Mediastinum Cancers,Mediastinum Neoplasm,Neoplasm, Mediastinal,Neoplasm, Mediastinum,Neoplasms, Mediastinum
D009373 Neoplasms, Germ Cell and Embryonal Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS. Germ Cell Cancer,Germ Cell Tumor,Neoplasms, Embryonal and Mixed,Cancer, Embryonal,Cancer, Embryonal and Mixed,Embryonal Neoplasms,Germ Cell Neoplasms,Germ Cell and Embryonal Neoplasms,Germ Cell and Embryonic Neoplasms,Neoplasms, Embryonal,Neoplasms, Germ Cell,Neoplasms, Germ Cell and Embryonic,Cancer, Germ Cell,Cancers, Embryonal,Cancers, Germ Cell,Embryonal Cancer,Embryonal Cancers,Embryonal Neoplasm,Germ Cell Cancers,Germ Cell Tumors,Neoplasm, Embryonal,Tumor, Germ Cell,Tumors, Germ Cell
D011629 Puberty, Precocious Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE. Familial Precocious Puberty,Idiopathic Sexual Precocity,Precocious Puberty,Precocious Puberty, Central,Precocious Puberty, Male Limited,Precocious Puberty, Male-Limited,Pubertas Praecox,Sexual Precocity,Testotoxicosis,Central Precocious Puberties,Central Precocious Puberty,Familial Precocious Puberties,Idiopathic Sexual Precocities,Male-Limited Precocious Puberties,Male-Limited Precocious Puberty,Praecox, Pubertas,Precocious Puberties,Precocious Puberties, Central,Precocious Puberties, Familial,Precocious Puberties, Male-Limited,Precocious Puberty, Familial,Precocities, Idiopathic Sexual,Precocities, Sexual,Precocity, Idiopathic Sexual,Precocity, Sexual,Puberties, Central Precocious,Puberties, Familial Precocious,Puberties, Male-Limited Precocious,Puberties, Precocious,Puberty, Central Precocious,Puberty, Familial Precocious,Puberty, Male-Limited Precocious,Sexual Precocities,Sexual Precocities, Idiopathic,Sexual Precocity, Idiopathic
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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