Abstract

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.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Research Project (R01)
Project #
5R01DK000180-39
Application #
3224235
Study Section
Endocrinology Study Section (END)
Project Start
1976-01-01
Project End
1991-03-31
Budget Start
1990-01-01
Budget End
1991-03-31
Support Year
39
Fiscal Year
1990
Total Cost
Indirect Cost

  Institution

Name
Johns Hopkins University
Department
Type
Schools of Medicine
DUNS #
045911138
City
Baltimore
State
MD
Country
United States
Zip Code
21218

  Publications

Migeon, Claude J; Wisniewski, Amy B; Brown, Terry R et al. (2002) 46,XY intersex individuals: phenotypic and etiologic classification, knowledge of condition, and satisfaction with knowledge in adulthood. Pediatrics 110:e32
Migeon, Claude J; Wisniewski, Amy B; Gearhart, John P et al. (2002) Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics 110:e31
Sher, E S; Migeon, C J; Berkovitz, G D (1998) Evaluation of boys with marked breast development at puberty. Clin Pediatr (Phila) 37:367-71
Fuqua, J S; Sher, E S; Fechner, P Y et al. (1996) Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. J Clin Endocrinol Metab 81:4479-83
Murono, K; Mendonca, B B; Arnhold, I J et al. (1995) Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. Hum Mutat 6:152-62
Donohoue, P A; Guethlein, L; Collins, M M et al. (1995) The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region. Tissue Antigens 46:163-72
Turner, B; Fechner, P Y; Fuqua, J S et al. (1995) Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene. Am J Med Genet 57:440-3
Fechner, P Y; Rosenberg, C; Stetten, G et al. (1994) Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: evidence for the etiology of 46,XX true hermaphroditism. Cytogenet Cell Genet 66:22-6
Marcantonio, S M; Fechner, P Y; Migeon, C J et al. (1994) Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis. Am J Med Genet 49:1-5
Fechner, P Y; Marcantonio, S M; Ogata, T et al. (1993) Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. J Clin Endocrinol Metab 76:1248-53

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