Advertisement

European Journal of Pediatrics

, Volume 151, Issue 3, pp 167–169 | Cite as

Progressive high frequency hearing loss: An additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency

  • M. Zachmann
  • E. Fuchs
  • A. Prader
Endocrinology

Abstract

In an earlier report, we found that X-linked congenital adrenal hypoplasia may be associated with gonadotrophin deficiency. This combination has since been confirmed by many others. At the last examination, our patients were 22.4, 19.9 and 17.5 years old. They were doing well on replacement therapy with hydrocortisone, fluorohydrocortisone, and long-acting testosterone, but in all of them, a progressive hearing loss had appeared, starting at high freqencies at about 14 years of age. The loss progressed with age to lower frequencies, and the oldest patient had some remaining hearing capacity at 125–500 Hz only with a perceptive hearing loss of −95 dB at frequencies above 500 Hz. It is concluded that patients with this syndrome should be examined for hearing loss. X-linked adrenal hypoplasia may also be associated with glycerol kinase deficiency and myopathy. A molecular XP-deletion has suggested a locus for hypogonadotrophic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci. The observations in our patients suggest that the locus for at least this type of X-linked deafness may be in the same area.

Key words

Congenital adrenal hypoplasia Gonadotrophin deficiency Hearing loss X-linked deafness 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Bartley JA, Miller DK, Hayford JT, McCabe ER (1982) Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. Lancet II: 733–736Google Scholar
  2. 2.
    Bayley N, Pinneau S (1952) Tables for predicting adult height from skeletal age. J Pediat 40: 432–435Google Scholar
  3. 3.
    Bessac L, Bost M, Bachelot Y, Andrini P (1988) Hypogonadotrophic hypogonadism and peripheral adrenal insufficiency in 2 brothers. Pédiatrie 43: 129–130Google Scholar
  4. 4.
    Bovet P, Reymond MJ, Rey F, Gomez F (1988) Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia. J Endocrinol Invest 11: 201–204PubMedGoogle Scholar
  5. 5.
    Brook CGD, Bambach R, Zachmann M, Prader A (1973) Familial congenital adrenal hypoplasia. Helv Paediatr Acta 28: 277PubMedGoogle Scholar
  6. 6.
    Chaussain JL, Roger M, Job JC (1982) Gonadotropic insufficiency associated with the cytomegalic type of congenital adrenal hypoplasia. Arch Fr Pediatr 39: 109–110PubMedGoogle Scholar
  7. 7.
    Ferrandez A, Fuertes J, Martinez MP, Atares M, Zubillaga P (1984) Congenital adrenal hypoplasia in a male with gonadotropin deficiency. Helv Paediatr Acta 39: 379–384PubMedGoogle Scholar
  8. 8.
    Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschutter A, Seltzer WK, Saito F, Goto J, Harpey JP (1987) Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet 40: 212–227PubMedGoogle Scholar
  9. 9.
    Goonewarden P, Dahl N, Ritzen M, Vanommen GJB, Pettersson U (1989) Molecular XP-deletion in a male — suggestion of a locus for hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci. Clin Genet 35: 5–12PubMedGoogle Scholar
  10. 10.
    Gordon D, Cohen HN, Beastall GH, Hay ID, Thomson JA (1984) Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome. Clin Endocrinol (Oxf) 21: 597–603Google Scholar
  11. 11.
    Greulich WW, Pyle SI (1959) Radiographic atlas of skeletal development of the hand and wrist, ed 2. Stanford University Press, Stanford, CaliforniaGoogle Scholar
  12. 12.
    Hay ID, Smail PJ, Forsyth CC (1981) Familial cytomegalic adrenocortical hypoplasia—an X-linked syndrome of pubertal failure. Arch Dis Child 56: 715–721PubMedGoogle Scholar
  13. 13.
    Kikuchi K, Kaji M, Momoi T, Mikawa H, Shigematsu Y, Sudo M (1987) Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone. Acta Endocrinol (Copenh) 114: 153–160Google Scholar
  14. 14.
    Kruse K, Sippell WG, Schnakenburg KV von (1984) Hypogonadism in congenital adrenal hypoplasia: evidence for a hypothalamic origin. J Clin Endocrinol Metab 58: 12–17PubMedGoogle Scholar
  15. 15.
    Matsumoto T, Kondoh T, Yoshimoto M, Fujieda K, Matsuura N, Matsuda I, Miike T, Yano K, Okuno A, Aoki Y (1988) Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. Am J Med Genet 31: 603–616PubMedGoogle Scholar
  16. 16.
    Oleesky DA, Hakeem V (1989) Congenital adrenal hypoplasia and glycerol kinase deficiency. Acta Paediatr Scand 78: 893–895PubMedGoogle Scholar
  17. 17.
    Partsch CJ, Sippell WG (1989) Hypothalamic hypogonadism in congenital adrenal hypoplasia. Horm Metab Res 21: 623–625PubMedGoogle Scholar
  18. 18.
    Petersen KE, Bille T, Jacobsen BB, Iversen T (1982) X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family. Acta Paediatr Scand 71: 947–951PubMedGoogle Scholar
  19. 19.
    Prader A, Zachmann M, Illig R (1975) Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. J Pediatr 86: 421PubMedGoogle Scholar
  20. 20.
    Rasmussen NH, Christoffersen J, Damkjaer Nielsen M (1986) Congenital adrenal hypoplasia. Acta Paediatr Scand 75: 870–871PubMedGoogle Scholar
  21. 21.
    Reardon W, Middleton-Price H, Malcolm S, Phelps P, Pembrey ME (1990) X-linked deafness is a heterogeneous disorder. J Med Genet 27: 646Google Scholar
  22. 22.
    Stuhrmann M, Heilbronner H, Reis A, Wegner RD, Fischer P, Schmidtke J (1991) Characterization of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. Hum Genet 86: 414–415PubMedGoogle Scholar
  23. 23.
    Zachmann M, Illig R, Prader A (1980) Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. J Pediatr 97: 255–257PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • M. Zachmann
    • 1
  • E. Fuchs
    • 1
  • A. Prader
    • 1
  1. 1.Department of PaediatricsUniversity of Zurich, KinderspitalZürichSwitzerland

Personalised recommendations