It is our main purpose to continue investigating the relation of hormones to growth and development. Although our main emphasis is to be in the field of steroids, particularly androgens, we plan to correlate the data with the study of steroid receptors and of various peptide hormones such as gonadotropins. During the period of growth, there develops unique experiments of nature, the study of which helps the understanding of fundamental problems of Endocrinology and Metabolism. Clinical investigations of these physiologic changes and of changes in genetic mutations will be coupled with laboratory studies of steroid receptor proteins. They will include: 1. Studies of cultured human skin fibroblasts: a. Further characterization of the androgen receptor. b. Biological response of fibroblasts to androgens. d. Attempts to determine the defect in Androgen Insensitivity with Receptor plus. d. Mapping of androgen receptor locus on the X chromosome. e. Androgen metabolism. 2. Abnormalities of male sex differentiation: a. Male pseudohermaphroditism. b. Regulation of gonadotropin secretion in Androgen Insensitivity. c. Long range follow up of Micropenis and cryptorchidism. 3. Studies on Congenital Virilizing Adrenal Hyperplasia: a. Attenuated form in females. b. HLA locus and 21-hydroxylase: incidence of recombination. c. Origin of androgens in untreated males. d. Prenatal diagnosis of CVAH. 4. Studies on Puberty: a. Puberty in males with Addison's Disease . b. Pituitary-gonadal function in Noonan's Syndrome and patients receiving Tofranil.

National Institute of Health (NIH)
National Institute of Arthritis, Diabetes, Digestive and Kidney Diseases (NIADDK)
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Endocrinology Study Section (END)
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Johns Hopkins University
Schools of Medicine
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Lee, P A; Migeon, C J; Bias, W B et al. (1987) Familial hypersecretion of adrenal androgens transmitted as a dominant, non-HLA linked trait. Obstet Gynecol 69:259-64
Kruter, R H; Berkovitz, G D; Migeon, C J et al. (1987) Effects of 10-(2-propynyl)-estr-4-ene-3,17-dione (MDL 18,962)--a mechanism-based irreversible inhibitor of aromatase--in cultured human foreskin fibroblasts. J Steroid Biochem 28:139-45
Mulaikal, R M; Migeon, C J; Rock, J A (1987) Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 316:178-82
Hsiang, Y H; Berkovitz, G D; Bland, G L et al. (1987) Gonadal function in patients with Down syndrome. Am J Med Genet 27:449-58
Hsiang, Y H; Berkovitz, G D; Brown, T R et al. (1987) The influence of 4-hydroxy-4-androstene-3,17-dione on androgen metabolism and action in cultured human foreskin fibroblasts. J Steroid Biochem 26:131-5
Jospe, N; Donohoue, P A; Van Dop, C et al. (1987) Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia. Biochem Biophys Res Commun 142:798-804
Libber, S M; Migeon, C J; Brown 3rd, F R et al. (1986) Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy. Horm Res 24:1-8
Donohoue, P A; Jospe, N; Migeon, C J et al. (1986) Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes. Biochem Biophys Res Commun 136:722-9
Fujimoto, M; Berkovitz, G D; Brown, T R et al. (1986) Time-dependent biphasic response of aromatase to dexamethasone in cultured human skin fibroblasts. J Clin Endocrinol Metab 63:468-74
Lee, P A; Van Dop, C; Migeon, C J (1986) McCune-Albright syndrome. Long-term follow-up. JAMA 256:2980-4

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