New perspectives in the diagnosis of pediatric male hypogonadism: The importance of AMH as a sertoli cell marker;Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: A importância do amh como marcador de células de sertoli

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 55, Issue 8, 2011, Pages 512-519

  Grinspon, Romina P ^a   Rey, Rodolfo A ^a,b  

^a HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

Anorchia; Cryptorchidism; Disorders of sex development; Hypergonadotrophic hypogonadism; Hypogonadotrophic hypogonadism; Testis

Indexed keywords

EID: 84855438747     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302011000800003     Document Type: Review

References (45)

1. Petersen C, Söder O. The Sertoli cell: a hormonal target and 'super' nurse for germ cells that determines testicular size. Horm Res. 2006;66:153-61.
2. Svechnikov K, Söder O. Ontogeny of gonadal sex steroids. Best Pract Res Clin Endocrinol Metab. 2008;22:95-106.
3. Ivell R, Hartung S. The molecular basis of cryptorchidism. Mol Hum Reprod. 2003;9:175-81.
4. Bergadá I, Milani C, Bedecarrás P, Andreone L, Ropelato MG, Gottlieb S, et al. Time course of the serum gonadotropin surge, inhibins, and anti-Müllerian hormone in normal newborn males during the frst month of life. J Clin Endocrinol Metab. 2006;91:4092-8.
5. Forest MG, Sizonenko PC, Cathiard AM, Bertrand J. Hypophy-so-gonadal function in humans during the frst year of life. 1. Evidence for testicular activity in early infancy. J Clin Invest. 1974;53:819-28.
6. Lukas-Croisier C, Lasala C, Nicaud J, Bedecarrás P, Kumar TR, Du-tertre M, et al. Follicle-stimulating hormone increases testicular anti-Müllerian hormone (AMH) production through Sertoli cell proliferation and a nonclassical cyclic adenosine 5'-monophos-phate-mediated activation of the AMH gene. Mol Endocrinol. 2003;17:550-61.
7. Müller J, Skakkebæk NE. Quantifcation of germ cells and seminiferous tubules by stereological examination of testicles from 50 boys who suffered from sudden death. Int J Androl. 1983;6:143-56.
8. Nistal M, Abaurrea MA, Paniagua R. Morphological and histome-tric study on the human Sertoli cell from birth to the onset of puberty. J Anat. 1982;134(Pt 2):351-63.
9. Pasqualini T, Chemes H, Rivarola MA. Testicular testosterone levels during puberty in cryptorchidism. Clin Endocrinol. 1981;15:545-54.
10. Rey R, Lukas-Croisier C, Lasala C, Bedecarrás P. AMH/MIS: what we know already about the gene, the protein and its regulation. Mol Cell Endocrinol. 2003;211:21-31.
11. Grinspon R P, Bedecarrás P, Ballerini MG, Iñíguez G, Rocha A, Resende EAMR, et al. Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21. Int J Androl. 2011;34(5 Pt 2):e487-98.
12. Aksglaede L, Sorensen K, Boas M, Mouritsen A, Hagen C P, Jensen RB, et al. Changes in Anti-Müllerian hormone (AMH) throughout the life span: a population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years. J Clin Endocrinol Metab. 2010;95:5357-64.
13. Lasala C, Carré-Eusèbe D, Picard J Y, Rey R. Subcellular and molecular mechanisms regulating anti-Mullerian hormone gene expression in mammalian and nonmammalian species. DNA Cell Biol. 2004;23:572-85.
14. Bougnères P, François M, Pantalone L, Rodrigue D, Bouvattier C, Demesteere E, et al. Effects of an early postnatal treatment of hy-pogonadotropic hypogonadism with a continuous subcutaneous infusion of recombinant follicle-stimulating hormone and luteini-zing hormone. J Clin Endocrinol Metab. 2008;93:2202-5.
15. Young J, Chanson P, Salenave S, Noël M, Brailly S, O'Flaherty M, et al. Testicular anti-Müllerian hormone secretion is stimulated by recombinant human FSH in patients with congenital hypogona-dotropic hypogonadism. J Clin Endocrinol Metab. 2005;90:724-8.
16. Al-Attar L, Noël K, Dutertre M, Belville C, Forest MG, Burgoyne PS, et al. Hormonal and cellular regulation of Sertoli cell anti--Müllerian hormone production in the postnatal mouse. J Clin Invest. 1997;100:1335-43.
17. Rey R, Lordereau-Richard I, Carel JC, Barbet P, Cate RL, Roger M, et al. Anti-Müllerian hormone and testosterone serum levels are inversely related during normal and precocious pubertal development. J Clin Endocrinol Metab. 1993;77:1220-6.
18. Rey R, Mebarki F, Forest MG, Mowszowicz I, Cate RL, Morel Y, et al. Anti-Müllerian hormone in children with androgen insensitivi-ty. J Clin Endocrinol Metab. 1994;79:960-4.
19. Rey RA, Belville C, Nihoul-Fékété C, Michel-Calemard L, Forest MG, Lahlou N, et al. Evaluation of gonadal function in 107 inter-sex patients by means of serum anti-Müllerian hormone measurement. J Clin Endocrinol Metab. 1999;84:627-31.
20. Chemes HE, Rey RA, Nistal M, Regadera J, Musse M, Gonzalez--Peramato P, et al. Physiologic androgen insensitivity of the fetal, neonatal, and early infantile testis is explained by the ontogeny of the androgen receptor expression in Sertoli cells. J Clin Endo-crinol Metab. 2008;93:4408-12.
21. Berensztein EB, Baquedano MS, Gonzalez CR, Saraco NI, Rodriguez J, Ponzio R, et al. Expression of aromatase, estrogen receptor alpha and beta, androgen receptor, and cytochrome P-450scc in the human early prepubertal testis. Pediatr Res. 2006;60:740-4.
22. Boukari K, Meduri G, Brailly-Tabard S, Guibourdenche J, Ciam-pi ML, Massin N, et al. Lack of androgen receptor expression in Sertoli cells accounts for the absence of anti-Müllerian hormone repression during early human testis development. J Clin Endo-crinol Metab. 2009;94:1818-25.
23. Andersson AM. Inhibin B in the assessment of seminiferous tubular function. Baillieres Best Pract Res Clin Endocrinol Metab. 2000;14:389-97.
24. Rey R. Assessment of seminiferous tubule function (anti-Mülle-rian hormone). Baillieres Best Pract Res Clin Endocrinol Metab. 2000;14:399-408.
25. Bergadá I, Bergadá C, Campo SM. Role of inhibins in childhood and puberty. J Pediatr Endocrinol Metab. 2001;14:343-53.
26. Lee MM, Misra M, Donahoe PK, MacLaughlin DT. MIS/AMH in the assessment of cryptorchidism and intersex conditions. Mol Cell Endocrinol. 2003;211:91-8.
27. Lee MM, Donahoe PK, Silverman BL, Hasegawa T, Hasegawa Y, Gustafson ML, et al. Measurements of serum Müllerian inhibiting substance in the evaluation of children with nonpalpable gonads. N Engl J Med. 1997;336:1480-6.
28. Josso N. Paediatric applications of anti-Müllerian hormone research. 1992 Andrea Prader Lecture. Horm Res. 1995;43:243-8.
29. Young J, Rey R, Couzinet B, Chanson P, Josso N, Schaison G.Anti--Müllerian hormone in patients with hypogonadotropic hypogo-nadism. J Clin Endocrinol Metab. 1999;84:2696-9.
30. Adan L, Lechevalier P, Couto-Silva AC, Boissan M, Trivin C, Brailly--Tabard S, et al. Plasma inhibin B and anti-Müllerian hormone concentrations in boys: Discriminating between congenital hypo-gonadotropic hypogonadism and constitutional pubertal delay. Med Sci Monit. 2010;16:CR511-CR7.
31. Coutant R, Biette-Demeneix E, Bouvattier C, Bouhours-Nouet N, Gatelais F, Dufresne S, et al. Baseline inhibin B and anti-Müllerian hormone measurements for diagnosis of hypogonadotropic hy-pogonadism (HH) in boys with delayed puberty. J Clin Endocrinol Metab. 2010;95:5225-32.
32. Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley W F, Jameson JL. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone [see comments]. N Engl J Med. 1992;326:179-83.
33. Ma X, Dong Y, Matzuk MM, Kumar TR. Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertility. PNAS U S A. 2004;101:17294-9.
34. Rey RA, Codner E, Iñíguez G, Bedecarrás P, Trigo R, Okuma C, et al. Low risk of impaired testicular Sertoli and Leydig cell functions in boys with isolated hypospadias. J Clin Endocrinol Metab. 2005;90:6035-40.
35. Bastida MG, Rey RA, Bergadá I, Bedecarrás P, Andreone L, del Rey G, et al. Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. Clin Endocrinol. 2007;67:863-70.
36. Misra M, MacLaughlin DT, Donahoe PK, Lee MM. Measurement of Müllerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism. J Clin Endocrinol Metab. 2002;87:3598-602.
37. Shalet SM, Tsatsoulis A, Whitehead E, Read G. Vulnerability of the human Leydig cell to radiation damage is dependent upon age. J Endocrinol. 1989;120:161-5.
38. Tapanainen JS, Aittomaki K, Min J, Vaskivuo T, Huhtaniemi IT. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet. 1997;15:205-6.
39. Josso N, Belville C, di Clemente N, Picard JY. AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Re-prod Update. 2005;11:351-6.
40. Yu RN, Achermann JC, Ito M, Jameson JL. The role of DAX-1 in reproduction. Trends Endocrinol Metab. 1998;9:169-75.
41. Meeks JJ, Crawford SE, Russell TA, Morohashi K, Weiss J, Jameson JL. Dax1 regulates testis cord organization during gonadal differentiation. Development. 2003;130:1029-36.
42. Bergadá I, Andreone L, Bedecarrás P, Ropelato MG, Copelli S, Laissue P, et al. Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism. Clin Endocrinol. 2008;68:240-6.
43. Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, et al. Hypothalamic and gonadal components of hypogona-dism in boys with Prader-Labhart- Willi Syndrome. J Clin Endo-crinol Metab. 2006;91:892-8.
44. Fillion M, Deal CL, Van Vliet G. Normal minipuberty of infancy in boys with Prader-Willi syndrome. J Pediatr. 2006;149:874-6.
45. Hirsch HJ, Eldar-Geva T, Benarroch F, Rubinstein O, Gross-Tsur V. Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. J Clin Endocrinol Metab. 2009;94:2262-8.