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- Title
Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader-Willi syndrome.
- Authors
Radicioni, A. F.; Di Giorgio, G.; Grugni, G.; Cuttini, M.; Losacco, V.; Anzuini, A.; Spera, S.; Marzano, C.; Lenzi, A.; Cappa, M.; Crinò, A.
- Abstract
Summary Background Hypogonadism in Prader-Willi syndrome (PWS) is generally attributed to hypothalamic dysfunction or to primary gonadal defect, but pathophysiology is still unclear. Objectives To investigate the aetiology of hypothalamic-pituitary-gonadal axis dysfunction in PWS males. Methods Clinical examination and blood sampling for luteinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone, inhibin B and sexhormone-binding globulin (SHBG) were performed in 34 PWS patients, age 5·1-42·7 years, and in 125 healthy males of same age range. All participants were divided into two groups : < or ≥13·5 years. Results Pubertal PWS patients showed an arrest of pubertal development. Patients <13·5 years had normal LH, FSH, testosterone and 7/10 had low inhibin B. Among those ≥13·5 years, 8/24 patients had normal LH and testosterone, high FSH and low inhibin B. 5/24 had low FSH, LH, testosterone and inhibin B; one showed normal LH and FSH despite low testosterone and inhibin B; 4/24 had low testosterone and LH but normal FSH despite low inhibin B; 6/24 showed high FSH, low inhibin B and normal LH despite low testosterone. Compared with controls, patients <13·5 years had lower LH, inhibin B, similar FSH, testosterone, SHBG levels and testicular volume; those ≥13·5 years had smaller testicular volume, near-significantly lower LH, testosterone, SHBG, inhibin B and higher FSH. Conclusion PWS patients display heterogeneity of hypogonadism: (i) hypogonadotropic hypogonadism of central origin for LH and/or FSH; (ii) early primary testicular dysfunction (Sertoli cells damage); and (iii) a combined hypogonadism (testicular origin for FSH-inhibin B axis and central origin for LH-T axis).
- Subjects
HYPOGONADISM; PRADER-Willi syndrome; HYPOTHALAMUS diseases; PATHOLOGICAL physiology; ETIOLOGY of diseases; HYPOTHALAMIC-pituitary-adrenal axis
- Publication
Clinical Endocrinology, 2012, Vol 76, Issue 1, p72
- ISSN
0300-0664
- Publication type
Article
- DOI
10.1111/j.1365-2265.2011.04161.x