Abstract
To try and find out if a defect in androgen biosynthesis or action could be responsible for the incomplete virilisation seen in boys with isolated hypospadias and isolated micropenis, androgen receptor binding was studied in genital skin fibroblasts established from 18 boys with isolated micropenis and 19 boys with isolated hypospadias. The production of gonadotrophins and testosterone was also measured in the boys with micropenis. There was no evidence of gonadotrophin deficiency, or of a defect in testosterone biosynthesis in the boys with micropenis, and there was no evidence of a quantitative or qualitative defect of androgen binding in either group. These isolated abnormalities may be the result of transient defects in androgen synthesis or action, or both, during a critical phase of embryogenesis.
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- Amrhein J. A., Meyer W. J., 3rd, Danish R. K. Studies of androgen production and binding in 13 male pseudohermaphrodites and 13 males with micropenis. J Clin Endocrinol Metab. 1977 Oct;45(4):732–738. doi: 10.1210/jcem-45-4-732. [DOI] [PubMed] [Google Scholar]
- Dwyer T., Ponsonby A. L., Newman N. M., Gibbons L. E. Prospective cohort study of prone sleeping position and sudden infant death syndrome. Lancet. 1991 May 25;337(8752):1244–1247. doi: 10.1016/0140-6736(91)92917-q. [DOI] [PubMed] [Google Scholar]
- Dyas J., Read G. F., Riad-Fahmy D. A simple robust assay for testosterone in male plasma using an 125I-radioligand and a solid-phase separation technique. Ann Clin Biochem. 1979 Nov;16(6):325–331. doi: 10.1177/000456327901600186. [DOI] [PubMed] [Google Scholar]
- Engelberts A. C., de Jonge G. A. Choice of sleeping position for infants: possible association with cot death. Arch Dis Child. 1990 Apr;65(4):462–467. doi: 10.1136/adc.65.4.462. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Evans B. A., Hughes I. A. Augmentation of androgen-receptor binding in vitro: studies in normals and patients with androgen insensitivity. Clin Endocrinol (Oxf) 1985 Nov;23(5):567–577. doi: 10.1111/j.1365-2265.1985.tb01117.x. [DOI] [PubMed] [Google Scholar]
- Evans B. A., Jones T. R., Hughes I. A. Studies of the androgen receptor in dispersed fibroblasts: investigation of patients with androgen insensitivity. Clin Endocrinol (Oxf) 1984 Jan;20(1):93–105. doi: 10.1111/j.1365-2265.1984.tb00063.x. [DOI] [PubMed] [Google Scholar]
- Ferguson K. M., Hayes M., Jeffcoate S. L. A standardised multicentre procedure for plasma gonadotrophin radioimmunoassay. Ann Clin Biochem. 1982 Sep;19(Pt 5):358–361. doi: 10.1177/000456328201900507. [DOI] [PubMed] [Google Scholar]
- George F. W., Simpson E. R., Milewich L., Wilson J. D. Studies on the regulation of the onset of steroid hormone biosynthesis in fetal rabbit gonads. Endocrinology. 1979 Nov;105(5):1100–1106. doi: 10.1210/endo-105-5-1100. [DOI] [PubMed] [Google Scholar]
- Hughes I. A., Evans B. A. The fibroblast as a model for androgen resistant states. Clin Endocrinol (Oxf) 1988 May;28(5):565–579. doi: 10.1111/j.1365-2265.1988.tb03692.x. [DOI] [PubMed] [Google Scholar]
- King R. J. Structure and function of steroid receptors. J Endocrinol. 1987 Sep;114(3):341–349. doi: 10.1677/joe.0.1140341. [DOI] [PubMed] [Google Scholar]
- Lubahn D. B., Joseph D. R., Sullivan P. M., Willard H. F., French F. S., Wilson E. M. Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science. 1988 Apr 15;240(4850):327–330. doi: 10.1126/science.3353727. [DOI] [PubMed] [Google Scholar]
- Page D. C., Mosher R., Simpson E. M., Fisher E. M., Mardon G., Pollack J., McGillivray B., de la Chapelle A., Brown L. G. The sex-determining region of the human Y chromosome encodes a finger protein. Cell. 1987 Dec 24;51(6):1091–1104. doi: 10.1016/0092-8674(87)90595-2. [DOI] [PubMed] [Google Scholar]
- Roberts C. J., Lloyd S. Observations on the epidemiology of simple hypospadias. Br Med J. 1973 Mar 31;1(5856):768–770. doi: 10.1136/bmj.1.5856.768. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Schweikert H. U., Knauf W., Romalo G., Höller W., Bidlingmaier F., Knorr D. Androgen binding in cultured human fibroblasts from patients with idiopathic hypospadias. Horm Metab Res. 1987 Oct;19(10):497–501. doi: 10.1055/s-2007-1011862. [DOI] [PubMed] [Google Scholar]
- Siiteri P. K., Wilson J. D. Testosterone formation and metabolism during male sexual differentiation in the human embryo. J Clin Endocrinol Metab. 1974 Jan;38(1):113–125. doi: 10.1210/jcem-38-1-113. [DOI] [PubMed] [Google Scholar]
- Sinclair A. H., Berta P., Palmer M. S., Hawkins J. R., Griffiths B. L., Smith M. J., Foster J. W., Frischauf A. M., Lovell-Badge R., Goodfellow P. N. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 1990 Jul 19;346(6281):240–244. doi: 10.1038/346240a0. [DOI] [PubMed] [Google Scholar]
- Svensson J., Snochowski M. Androgen receptor levels in preputial skin from boys with hypospadias. J Clin Endocrinol Metab. 1979 Sep;49(3):340–345. doi: 10.1210/jcem-49-3-340. [DOI] [PubMed] [Google Scholar]
- Tanner J. M., Whitehouse R. H. Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. Arch Dis Child. 1976 Mar;51(3):170–179. doi: 10.1136/adc.51.3.170. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Terakawa T., Shima H., Yabumoto H., Koyama K., Ikoma F. Androgen receptor levels in patients with isolated hypospadias. Acta Endocrinol (Copenh) 1990 Jul;123(1):24–29. doi: 10.1530/acta.0.1230024. [DOI] [PubMed] [Google Scholar]
- Winter J. S., Taraska S., Faiman C. The hormonal response to HCG stimulation in male children and adolescents. J Clin Endocrinol Metab. 1972 Feb;34(2):348–353. doi: 10.1210/jcem-34-2-348. [DOI] [PubMed] [Google Scholar]