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Endocrine and metabolic evaluation of classic Klinefelter syndrome and high-grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions?
Spaziani, Matteo; Mileno, Benedetta; Rossi, Fabio; Granato, Simona; Tahani, Natascia; Anzuini, Antonella; Lenzi, Andrea; Radicioni, Antonio F.
Afiliación
  • Spaziani M; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy matteo.spaziani@uniroma1.it.
  • Mileno B; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Rossi F; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Granato S; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Tahani N; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Anzuini A; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Lenzi A; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Radicioni AF; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Eur J Endocrinol ; 178(4): 343-352, 2018 Apr.
Article en En | MEDLINE | ID: mdl-29371337
OBJECTIVE: Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy in males. As well as classic KS, less frequent higher-grade aneuploidies (HGAs) are also possible. While KS and HGAs both involve testicular dysgenesis with hypergonadotropic hypogonadism, they differ in many clinical features. The aim of this study was to investigate the endocrinal and metabolic differences between KS and HGAs. DESIGN: Cross-sectional, case-control study. METHODS: 88 patients with KS, 24 with an HGA and 60 healthy controls. Given the known age-related differences all subjects were divided by age into subgroups 1, 2 and 3. Pituitary, thyroid, gonadal and adrenal functions were investigated in all subjects. Metabolic aspects were only evaluated in subjects in subgroups 2 and 3. RESULTS: FT4 and FT3 levels were significantly higher in HGA than in KS patients in subgroups 1 and 2; in subgroup 3, FT4 was significantly higher in controls than in patients. Thyroglobulin was significantly higher in HGA patients in subgroup 1 than in KS patients and controls. Hypergonadotropic hypogonadism was confirmed in both KS and HGA patients, but was more precocious in the latter, as demonstrated by the earlier increase in gonadotropins and the decrease in testosterone, DHEA-S and inhibin B. Prolactin was significantly higher in HGA patients, starting from subgroup 2. Total and LDL cholesterol were significantly higher in HGA patients than in KS patients and controls, while HDL cholesterol was higher in controls than in patients. CONCLUSIONS: KS and HGAs should be considered as two distinct conditions.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Cromosomas Sexuales / Síndrome de Klinefelter / Aneuploidia Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Cromosomas Sexuales / Síndrome de Klinefelter / Aneuploidia Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido