Skip to main content
PMC home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1981 Sep;56(9):715–721. doi: 10.1136/adc.56.9.715

Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure.

I D Hay, P J Smail, C C Forsyth
PMCID: PMC1627293  PMID: 7197507

Abstract

Five boys with familial cytomegalic adrenocortical hypoplasia have been followed up for an average of 19 years. Despite treatment with replacement corticosteroids, all 5 failed to show a spontaneous onset of puberty and, when assessed at ages 13 to 19 years, all had both sexual infantilism and skeletal immaturity. Hypogonadism was confirmed by low levels of plasma testosterone, and pituitary reserve of gonadotrophin was shown to be inadequate by testing with gonadotrophin-releasing hormone. Two boys, both with adequate testosterone output on human chorionic gonadotrophin stimulation, were given gonadotrophin therapy, whereas the other 3 were treated with parenterally administered testosterone. With treatment, all 5 patients showed advances in pubertal staging. Although the mechanism of the hypogonadotropism remains unclear, the association of hypogonadotrophic hypogonadism with familial cytomegalic adrenocortical hypoplasia appears to be a constant one and may be considered as a treatable inherited syndrome of pubertal failure.

Full text

PDF
718

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bickham R. E., Silvestre D., Mellinger R. C. Addison's Disease in half-siblings. Henry Ford Hosp Med J. 1968 Summer;16(2):157–162. [PubMed] [Google Scholar]
  2. Black S., Brook C. G., Cox P. J. Congenital adrenal hypoplasia and gonadotrophin deficiency. Br Med J. 1977 Oct 15;2(6093):996–996. doi: 10.1136/bmj.2.6093.996. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Copeland K. C., Paunier L., Sizonenko P. C. The secretion of adrenal androgens and growth patterns of patients with hypogonadotropic hypogonadism and isiopathic delayed puberty. J Pediatr. 1977 Dec;91(6):985–990. doi: 10.1016/s0022-3476(77)80912-8. [DOI] [PubMed] [Google Scholar]
  4. Forest M. G., De Peretti E., Bertrand J. Hypothalamic-pituitary-gonadal relationships in man from birth to puberty. Clin Endocrinol (Oxf) 1976 Sep;5(5):551–569. doi: 10.1111/j.1365-2265.1976.tb01985.x. [DOI] [PubMed] [Google Scholar]
  5. Genazzani A. R., Fraioli F., Hurlimann J., Fioretti P., Felber J. P. Immunoreactive ACTH and cortisol plasma levels during pregnancy. Detection and partial purification of corticotrophin-like placental hormone: the human chorionic corticotrophin (HCC). Clin Endocrinol (Oxf) 1975 Jan;4(1):1–14. doi: 10.1111/j.1365-2265.1975.tb03299.x. [DOI] [PubMed] [Google Scholar]
  6. Genazzani A. R., Pintor C., Facchinetti F., Carboni G., Pelosi U., Corda R. Adrenal and gonadal steroids in girls during sexual maturation. Clin Endocrinol (Oxf) 1978 Jan;8(1):15–25. doi: 10.1111/j.1365-2265.1978.tb01346.x. [DOI] [PubMed] [Google Scholar]
  7. Golden M. P., Lippe B. M., Kaplan S. A. Congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Am J Dis Child. 1977 Oct;131(10):1117–1118. doi: 10.1001/archpedi.1977.02120230063010. [DOI] [PubMed] [Google Scholar]
  8. HARLEM O. K., MYHRE E. Congenital adrenal hypoplasia; report of a case with the characteristic clinical features of dysadrenocorticism and autopsy findings of extreme hypoplasia of the adrenal glands. AMA J Dis Child. 1957 Dec;94(6):696–701. [PubMed] [Google Scholar]
  9. Hay I. D. Pubertal failure in congenital adrenocortical hypoplasia. Lancet. 1977 Nov 12;2(8046):1035–1036. doi: 10.1016/s0140-6736(77)92942-7. [DOI] [PubMed] [Google Scholar]
  10. KERENYI N. Congenital adrenal hypoplasia. Report of a case with extreme adrenal hypoplasia and neurohypophyseal aplasia, drawing attention to certain aspects of etiology and classification. Arch Pathol. 1961 Mar;71:336–343. [PubMed] [Google Scholar]
  11. Kelly W. F., Joplin G. F., Pearson G. W. Gonadotrophin deficiency and adrenocortical insufficiency in children: a new syndrome. Br Med J. 1977 Jul 9;2(6079):98–98. doi: 10.1136/bmj.2.6079.98. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. MITCHELL R. G., RHANEY K. Congenital adrenal hypoplasia in siblings. Lancet. 1959 Mar 7;1(7071):488–492. doi: 10.1016/s0140-6736(59)91020-7. [DOI] [PubMed] [Google Scholar]
  13. Mamelle J. C., David M., Riou D., Gilly J., Trouillas J., Dutruge J., Gilly R. Hypoplasie surrenalienne congenitale de type cytomegalique. Forme recessive liee au sexe. A propos de trois observations. Arch Fr Pediatr. 1975 Feb;32(2):139–159. [PubMed] [Google Scholar]
  14. Parker L. N., Chang S., Odell W. D. Adrenal androgens in patients with chronic marked elevation of prolactin. Clin Endocrinol (Oxf) 1978 Jan;8(1):1–5. doi: 10.1111/j.1365-2265.1978.tb01344.x. [DOI] [PubMed] [Google Scholar]
  15. Prader A., Zachmann M., Illig R. Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. J Pediatr. 1975 Mar;86(3):421–422. doi: 10.1016/s0022-3476(75)80978-4. [DOI] [PubMed] [Google Scholar]
  16. Rees L. H. ACTH, lipotrophin and MSH in health and disease. Clin Endocrinol Metab. 1977 Mar;6(1):137–153. doi: 10.1016/s0300-595x(77)80060-1. [DOI] [PubMed] [Google Scholar]
  17. Savage D. C., Forsyth C. C., MacCafferty E., Cameron J. The excretion of individual adenocartical steroids during normal childhood and adolescence. Acta Endocrinol (Copenh) 1975 Jul;79(3):551–567. doi: 10.1530/acta.0.0790551. [DOI] [PubMed] [Google Scholar]
  18. Sizonenko P. C. Preadolescent and adolescent endocrinology: physiology and physiopathology. II. Hormonal changes during abnormal pubertal development. Am J Dis Child. 1978 Aug;132(8):797–805. doi: 10.1001/archpedi.1978.02120330069017. [DOI] [PubMed] [Google Scholar]
  19. Sperling M. A., Wolfsen A. R., Fisher D. A. Congenital adrenal hypoplasia: an isolated defect of organogenesis. J Pediatr. 1973 Mar;82(3):444–449. doi: 10.1016/s0022-3476(73)80118-0. [DOI] [PubMed] [Google Scholar]
  20. Uttley W. S. Familial congenital adrenal hypoplasia. Arch Dis Child. 1968 Dec;43(232):724–730. doi: 10.1136/adc.43.232.724. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Visser H. K. Some physiological and clinical aspects of puberty. Arch Dis Child. 1973 Mar;48(3):169–182. doi: 10.1136/adc.48.3.169. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Weiss L., Mellinger R. C. Congenital adrenal hypoplasia--an X-linked disease. J Med Genet. 1970 Mar;7(1):27–32. doi: 10.1136/jmg.7.1.27. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Zondek L. H., Zondek T. Congenital adrenal hypoplasia in two infants. Acta Paediatr Scand. 1968 May;57(3):250–254. doi: 10.1111/j.1651-2227.1968.tb04687.x. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES