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Simon Chang, Christian Fynbo Christiansen, Anders Bojesen, Svend Juul, Anna-Marie B Münster and Claus H Gravholt

Introduction Men with 47,XXY Klinefelter syndrome (KS) commonly present hypergonadotropic hypogonadism and are commonly treated with testosterone supplementation therapy ( 1 ). However, this treatment is almost entirely based on our knowledge

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M Jensterle, A Podbregar, K Goricar, N Gregoric and A Janez

Introduction Obesity causes functional hypogonadism (FH) due to suppression of hypothalamus-pituitary-testicular (HPT) axis that is potentially reversible ( 1 ). Recent evidence suggests that weight reduction (WR) with lifestyle measures (LSMs

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Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani and Maria Teresa Bonati

association between TBX3 variants with isolated hypogonadotropic hypogonadism (IHH), signs of hypogonadism, including bilateral cryptorchidism, micropenis and delayed puberty, have been repeatedly reported among patients with UMS ( 3 , 4 , 5 , 6 , 7 , 8

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M I Stamou, P Varnavas, L Plummer, V Koika and N A Georgopoulos

hypogonadism (nIHH) ( 7 , 9 ). The majority of the genes are considered ‘overlap genes’ (i.e. the ones that are found to be disrupted in both KS and nIHH patients) and these (so far) include NSMF , FGFR1 , FGF8 , FGF17 , IL17RD , PROK2 , PROKR2 , HS6ST

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Morten Ruge, Tea Skaaby, Anna-Maria Andersson and Allan Linneberg

Introduction Male hypogonadism is a condition in which the body produces little or no testosterone, and the risk is increased in the middle- and older-aged male population ( 1 ). The primary symptoms are reduced libido, lack of effect of

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Teresa Lam, Mark McLean, Amy Hayden, Anne Poljak, Birinder Cheema, Howard Gurney, Glenn Stone, Neha Bahl, Navneeta Reddy, Haleh Shahidipour and Vita Birzniece

prevalence of hypogonadism of approximately 20% in men over the age of 60 years, reaching 50% in men over 80 years ( 4 , 5 ). In older men, testosterone replacement increases lean body mass (LBM), reduces fat mass (FM) and improves physical function ( 2

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Anna-Pauliina Iivonen, Johanna Känsäkoski, Kirsi Vaaralahti and Taneli Raivio

Introduction Congenital hypogonadotropic hypogonadism (cHH) is a rare genetic disease that prevents pubertal development and causes infertility due to deficient secretion or action of gonadotropin-releasing hormone (GnRH) ( 1 ). Congenital

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Rui-yi Tang, Rong Chen, Miao Ma, Shou-qing Lin, Yi-wen Zhang and Ya-ping Wang

Introduction Idiopathic hypogonadotropic hypogonadism (IHH) is also known as congenital hypogonadotropic hypogonadism. This rare clinically and genetically heterogeneous disorder is characterized by complete or partial pubertal failure, which

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Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho and Manuel C Lemos

Introduction Congenital hypogonadotropic hypogonadism (CHH) is characterised by partial or complete lack of pubertal development, secondary to deficient gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion ( 1 ). Diagnosis is

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Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin and Andrew A Dwyer

maintaining the reproductive capacity ( 2 ). Acquired GnRH deficiency (i.e. hypothalamic amenorrhea) is a common cause of secondary amenorrhea that is reversible ( 3 ). More severe forms of GnRH deficiency, such as congenital hypogonadotropic hypogonadism (CHH