AIM: Klinefelter syndrome (KS) is the most frequent sex chromosome disorder in males, but the phenotype varies greatly and is therefore highly under-diagnosed. We aimed at describing the phenotypic characteristics throughout life from clinical follow-up of our large cohort of patients with KS. METHODS: A retrospective observational study of 166 males with nonmosaic 47,XXY KS aged 0.3-80.3 years. Data on phenotype, growth, body composition, bone mineral density, sex hormones, lipids, glycosylated haemoglobin (HbA1C) and prostate-specific antigen were recorded. In addition, histological examination of testicular biopsies from 29 patients was performed. RESULTS: Patients with Klinefelter were taller already in childhood. All patients had smaller testicular volume and elevated luteinizing hormone (LH) and follicle-stimulating hormone levels in adulthood. Cryptorchidism was reported in 14%, gynaecomastia in 44%, and 36% required speech therapy or educational support. The abnormal biochemical parameters became evident after onset of puberty and correlated with histological findings of a gradual deterioration of seminiferous tubules and massive Leydig cell hyperplasia in adults. CONCLUSION: Our patients presented with a wide spectrum of the classical Klinefelter symptoms. In adulthood, two features were consistently present in every patient: small testes and high LH/testosterone ratio, often despite normal testosterone levels. Such biochemical parameters combined with small testes should lead to a suspicion of KS.
AIM: Klinefelter syndrome (KS) is the most frequent sex chromosome disorder in males, but the phenotype varies greatly and is therefore highly under-diagnosed. We aimed at describing the phenotypic characteristics throughout life from clinical follow-up of our large cohort of patients with KS. METHODS: A retrospective observational study of 166 males with nonmosaic 47,XXY KS aged 0.3-80.3 years. Data on phenotype, growth, body composition, bone mineral density, sex hormones, lipids, glycosylated haemoglobin (HbA1C) and prostate-specific antigen were recorded. In addition, histological examination of testicular biopsies from 29 patients was performed. RESULTS:Patients with Klinefelter were taller already in childhood. All patients had smaller testicular volume and elevated luteinizing hormone (LH) and follicle-stimulating hormone levels in adulthood. Cryptorchidism was reported in 14%, gynaecomastia in 44%, and 36% required speech therapy or educational support. The abnormal biochemical parameters became evident after onset of puberty and correlated with histological findings of a gradual deterioration of seminiferous tubules and massive Leydig cell hyperplasia in adults. CONCLUSION: Our patients presented with a wide spectrum of the classical Klinefelter symptoms. In adulthood, two features were consistently present in every patient: small testes and high LH/testosterone ratio, often despite normal testosterone levels. Such biochemical parameters combined with small testes should lead to a suspicion of KS.
Authors: Simon Chang; Anne Skakkebaek; Shanlee M Davis; Claus H Gravholt Journal: Am J Med Genet C Semin Med Genet Date: 2020-06-04 Impact factor: 3.908
Authors: Eisa Mahyari; Jingtao Guo; Ana C Lima; Daniel P Lewinsohn; Alexandra M Stendahl; Katinka A Vigh-Conrad; Xichen Nie; Liina Nagirnaja; Nicole B Rockweiler; Douglas T Carrell; James M Hotaling; Kenneth I Aston; Donald F Conrad Journal: Am J Hum Genet Date: 2021-10-07 Impact factor: 11.025
Authors: Anders Juul; Kristian Almstrup; Anna-Maria Andersson; Tina K Jensen; Niels Jørgensen; Katharina M Main; Ewa Rajpert-De Meyts; Jorma Toppari; Niels E Skakkebæk Journal: Nat Rev Endocrinol Date: 2014-06-17 Impact factor: 43.330
Authors: M Spaziani; S Granato; N Liberati; F M Rossi; N Tahani; C Pozza; D Gianfrilli; G Papi; A Anzuini; A Lenzi; L Tarani; A F Radicioni Journal: J Endocrinol Invest Date: 2020-05-06 Impact factor: 4.256