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Volumn 168, Issue 4, 2013, Pages

A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up

Author keywords

[No Author keywords available]

Indexed keywords

FLUDROCORTISONE; GONADOTROPIN; HYDROCORTISONE; INHIBIN B; LUTEINIZING HORMONE; NUCLEAR RECEPTOR DAX 1; TESTOSTERONE;

EID: 84875156910     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-1055     Document Type: Article
Times cited : (26)

References (24)
  • 1
    • 0028598360 scopus 로고
    • Mutations in the DAX1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
    • doi:10.1038/372672a0
    • Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W et al. Mutations in the DAX1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994 372 672-676. (doi:10.1038/372672a0)
    • (1994) Nature , vol.372 , pp. 672-676
    • Muscatelli, F.1    Strom, T.M.2    Walker, A.P.3    Zanaria, E.4    Recan, D.5    Meindl, A.6    Bardoni, B.7    Guioli, S.8    Zehetner, G.9    Rabl, W.10
  • 2
    • 0028558750 scopus 로고
    • An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
    • doi:10.1038/372635a0
    • Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994 372 635-641. (doi:10.1038/372635a0)
    • (1994) Nature , vol.372 , pp. 635-641
    • Zanaria, E.1    Muscatelli, F.2    Bardoni, B.3    Strom, T.M.4    Guioli, S.5    Guo, W.6    Lalli, E.7    Moser, C.8    Walker, A.P.9    McCabe, E.R.10
  • 3
    • 80053385226 scopus 로고    scopus 로고
    • Hypogonadotropic hypogonadism in subjects with DAX1 mutations
    • doi:10.1016/j.mce.2011.04.017
    • Jadhav U, Harris RM & Jameson JL. Hypogonadotropic hypogonadism in subjects with DAX1 mutations. Molecular and Cellular Endocrinology 2011 346 65-73. (doi:10.1016/j.mce.2011.04.017)
    • (2011) Molecular and Cellular Endocrinology , vol.346 , pp. 65-73
    • Jadhav, U.1    Harris, R.M.2    Jameson, J.L.3
  • 5
    • 0033886842 scopus 로고    scopus 로고
    • X-linked congenital adrenal hypoplasia: New mutations and long-term follow-up in three patients
    • doi:10.1046/j.1365-2265.2000.01038.x
    • Binder G, Wollmann H, Schwarze CP, Strom TM, Peter M & Ranke MB. X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients. Clinical Endocrinology 2000 53 249-255. (doi:10.1046/j.1365- 2265.2000.01038.x)
    • (2000) Clinical Endocrinology , vol.53 , pp. 249-255
    • Binder, G.1    Wollmann, H.2    Schwarze, C.P.3    Strom, T.M.4    Peter, M.5    Ranke, M.B.6
  • 8
    • 0037238501 scopus 로고    scopus 로고
    • An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita
    • doi:10.1210/jc.2002-021034
    • Ozisik G, Mantovani G, Achermann JC, Persani L, Spada A,Weiss J, Beck-Peccoz P & Jameson JL. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. Journal of Clinical Endocrinology and Metabolism 2003 88 417-423. (doi:10.1210/jc.2002-021034)
    • (2003) Journal of Clinical Endocrinology and Metabolism , vol.88 , pp. 417-423
    • Ozisik, G.1    Mantovani, G.2    Achermann, J.C.3    Persani, L.4    Spada, A.5    Weiss, J.6    Beck-Peccoz, P.7    Jameson, J.L.8
  • 9
    • 0031726716 scopus 로고    scopus 로고
    • Congenital adrenal hypoplasia: Clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX1 gene
    • doi:10.1210/jc.83.8.2666
    • Peter M, Viemann M, Partsch CJ & SippellWG. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX1 gene. Journal of Clinical Endocrinology and Metabolism 1998 83 2666-2674. (doi:10.1210/jc.83.8.2666)
    • (1998) Journal of Clinical Endocrinology and Metabolism , vol.83 , pp. 2666-2674
    • Peter, M.1    Viemann, M.2    Partsch, C.J.3    Sippell, W.G.4
  • 11
    • 78049523188 scopus 로고    scopus 로고
    • Puberty, stress, and sudden death
    • doi:10.1016/S0140-6736(10)61153-1
    • Guclu M, Lin L, Erturk E, Achermann JC & Cangul H. Puberty, stress, and sudden death. Lancet 2010 376 1512. (doi:10.1016/S0140-6736(10)61153-1)
    • (2010) Lancet , vol.376 , pp. 1512
    • Guclu, M.1    Lin, L.2    Erturk, E.3    Achermann, J.C.4    Cangul, H.5
  • 12
    • 34249944409 scopus 로고    scopus 로고
    • A novel missense mutation in DAX1 with an unusual presentation of X-linked adrenal hypoplasia congenita
    • doi:10.1159/000099835
    • Ahmad I, Paterson WF, Lin L, Adlard P, Duncan P, Tolmie J, Achermann JC & Donaldson MD. A novel missense mutation in DAX1 with an unusual presentation of X-linked adrenal hypoplasia congenita. Hormone Research 2007 68 32-37. (doi:10.1159/000099835)
    • (2007) Hormone Research , vol.68 , pp. 32-37
    • Ahmad, I.1    Paterson, W.F.2    Lin, L.3    Adlard, P.4    Duncan, P.5    Tolmie, J.6    Achermann, J.C.7    Donaldson, M.D.8
  • 14
    • 80052503783 scopus 로고    scopus 로고
    • Evidence of adrenal failure in aging Dax1-deficient mice
    • doi:10.1210/en.2010-0986
    • Scheys JO, Heato JH & Hammer GD. Evidence of adrenal failure in aging Dax1-deficient mice. Endocrinology 2011 152 3430-3439. (doi:10.1210/en.2010- 0986)
    • (2011) Endocrinology , vol.152 , pp. 3430-3439
    • Scheys, J.O.1    Heato, J.H.2    Hammer, G.D.3
  • 16
  • 17
    • 0033305217 scopus 로고    scopus 로고
    • X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females
    • doi:10.1210/jc.84.12.4501
    • Seminara SB, Achermann JC, Genel M, Jameson JL & Crowley WF. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. Journal of Clinical Endocrinology and Metabolism 1999 84 4501-4509. (doi:10.1210/jc.84.12.4501)
    • (1999) Journal of Clinical Endocrinology and Metabolism , vol.84 , pp. 4501-4509
    • Seminara, S.B.1    Achermann, J.C.2    Genel, M.3    Jameson, J.L.4    Crowley, W.F.5
  • 20
    • 0023676561 scopus 로고
    • A low sperm concentration does not preclude fertility in men with isolated hypogonadotropic hypogonadism after gonadotropin therapy
    • Burris A, Clark R, Vantman D & Sherins R. A low sperm concentration does not preclude fertility in men with isolated hypogonadotropic hypogonadism after gonadotropin therapy. Fertility and Sterility 1988 50 343-347.
    • (1988) Fertility and Sterility , vol.50 , pp. 343-347
    • Burris, A.1    Clark, R.2    Vantman, D.3    Sherins, R.4
  • 21
    • 33747644339 scopus 로고    scopus 로고
    • Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience
    • doi:10.1210/jc.2006-0603
    • Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL & Achermann JC. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. Journal of Clinical Endocrinology and Metabolism 2006 91 3048-3054. (doi:10.1210/jc.2006-0603)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , pp. 3048-3054
    • Lin, L.1    Gu, W.X.2    Ozisik, G.3    To, W.S.4    Owen, C.J.5    Jameson, J.L.6    Achermann, J.C.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.