Abstract
In one family several male and female members had hypogonadism and frontoparietal alopecia, whereas other members with normal sexual development had normal scalp hair. Clinical and laboratory evaluation of three affected young men (two brothers and their cousin) revealed that the hypogonadism was the result of decreased serum concentrations of follicle stimulating and luteinizing hormones. There was no evidence of a deficiency of any other pituitary hormone. Long-term treatment of the three patients with human chorionic gonadotropin resulted in an increase in the serum testosterone concentration, the appearance of male secondary sex characteristics and an increase in the size of the external genitalia.
Full text
PDF




Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- ALBERT A., UNDERDAHL L. O., GREENE L. F., LORENZ N. Male hypogonadism. IV. The testis in prepubertal or pubertal gonadotropic failure. Proc Staff Meet Mayo Clin. 1954 Feb 24;29(4):131–136. [PubMed] [Google Scholar]
- BIBEN R. L., GORDAN G. S. Familial hypogonadotropic eunuchoidism. J Clin Endocrinol Metab. 1955 Aug;15(8):931–942. doi: 10.1210/jcem-15-8-931. [DOI] [PubMed] [Google Scholar]
- Bell J., Spitz I., Perlman A., Segal S., Palti Z., Rabinowitz D. Heterogeneity of gonadotropin response to LHRH in hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 1973 Apr;36(4):791–794. doi: 10.1210/jcem-36-4-791. [DOI] [PubMed] [Google Scholar]
- Boucher B. J., Gibberd F. B. Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand. 1969;45(4):507–510. [PubMed] [Google Scholar]
- Bowen P., Ferguson-Smith M. A., Mosier D., Lee C. S., Butler H. G. The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. Arch Intern Med. 1965 Oct;116(4):598–604. doi: 10.1001/archinte.116.4.598. [DOI] [PubMed] [Google Scholar]
- Boyar R. M., Finkelstein J. W., Witkin M., Kapen S., Weitzman E., Hellman L. Studies of endocrine function in "isolated" gonadotropin deficiency. J Clin Endocrinol Metab. 1973 Jan;36(1):64–72. doi: 10.1210/jcem-36-1-64. [DOI] [PubMed] [Google Scholar]
- Crandall B. F., Samec L., Sparkes R. S., Wright S. W. A familial syndrome of deafness, alopecia, and hypogonadism. J Pediatr. 1973 Mar;82(3):461–465. doi: 10.1016/s0022-3476(73)80121-0. [DOI] [PubMed] [Google Scholar]
- Dufau M. L., Catt K. J., Tsuruhara T., Ryan D. Radioimmunoassay of plasma testosterone. Clin Chim Acta. 1972 Mar;37:109–116. doi: 10.1016/0009-8981(72)90421-4. [DOI] [PubMed] [Google Scholar]
- Ewer R. W. Familial monotropic pituitary gonadotropin insufficiency. J Clin Endocrinol Metab. 1968 Jun;28(6):783–788. doi: 10.1210/jcem-28-6-783. [DOI] [PubMed] [Google Scholar]
- Hall B. D., Smith D. W. Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. J Pediatr. 1972 Aug;81(2):286–293. doi: 10.1016/s0022-3476(72)80297-x. [DOI] [PubMed] [Google Scholar]
- Hwang P., Guyda H., Friesen H. A radioimmunoassay for human prolactin. Proc Natl Acad Sci U S A. 1971 Aug;68(8):1902–1906. doi: 10.1073/pnas.68.8.1902. [DOI] [PMC free article] [PubMed] [Google Scholar]
- LE MARQUAND H. S. Congenital hypogonadotrophic hypogonadism in five members of a family, three brothers and two sisters. Proc R Soc Med. 1954 Jun;47(6):442–446. [PubMed] [Google Scholar]
- LYNCH H. T., OZER F., MCNUTT C. W., JOHNSON J. E., JAMPOLSKY N. A. Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases. Am J Hum Genet. 1960 Dec;12:440–447. [PMC free article] [PubMed] [Google Scholar]
- MATTHEWS W. B., RUNDLE A. T. FAMILIAL CEREBELLAR ATAXIA AND HYPOGONADISM. Brain. 1964 Sep;87:463–468. doi: 10.1093/brain/87.3.463. [DOI] [PubMed] [Google Scholar]
- MOLDAWER M. P., ALBRIGHT F., BENEDICT P. H., FORBES A. P., HENNEMAN P. H. Eunuchoidism with low urinary follicle-stimulating hormone in the female: comparison with this syndrome in the male and with the premenarchal menopause. J Clin Endocrinol Metab. 1958 Jan;18(1):1–14. doi: 10.1210/jcem-18-1-1. [DOI] [PubMed] [Google Scholar]
- Males J. L., Townsend J. L., Schneider R. A. Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function. Arch Intern Med. 1973 Apr;131(4):501–507. doi: 10.1001/archinte.131.4.501. [DOI] [PubMed] [Google Scholar]
- Midgley A. R. Radioimmunoassay for human follicle-stimulating hormone. J Clin Endocrinol Metab. 1967 Feb;27(2):295–299. doi: 10.1210/jcem-27-2-295. [DOI] [PubMed] [Google Scholar]
- Molinatti G. M., Massara F., Strumia E., Pennisi F., Scassellati G. A., Vancheri L. Radioimmunoassay of human growth hormone. J Nucl Biol Med. 1969 Jan-Jun;13(1):26–36. [PubMed] [Google Scholar]
- Olson W. H., Bardin C. W., Walsh G. O., Engel W. K. Moebius syndrome. Lower motor neuron involvement and hypogonadotrophic hypogonadism. Neurology. 1970 Oct;20(10):1002–1008. doi: 10.1212/wnl.20.10.1002. [DOI] [PubMed] [Google Scholar]
- REDDY W. J. Modification of the Reddy-Jenkins-Thorn method for the estimation of 17-hydroxycorticoids in urine. Metabolism. 1954 Nov;3(6):489–492. [PubMed] [Google Scholar]
- REINFRANK R. F., NICHOLS F. L. HYPOGONADOTROPHIC HYPOGONADISM IN THE LAURENCE-MOON SYNDROME. J Clin Endocrinol Metab. 1964 Jan;24:48–53. doi: 10.1210/jcem-24-1-48. [DOI] [PubMed] [Google Scholar]
- ROSEWATER S., GWINUP G., HAMWI G. J. FAMILIAL GYNECOMASTIA. Ann Intern Med. 1965 Sep;63:377–385. doi: 10.7326/0003-4819-63-3-377. [DOI] [PubMed] [Google Scholar]
- Reiter E. O., Root A. W., Duckett G. E. LH and FSH levels in urine and serum of prepubertal and pubertal children receiving a 3 hour infusion of LH-RH. J Clin Endocrinol Metab. 1977 Jan;44(1):56–61. doi: 10.1210/jcem-44-1-56. [DOI] [PubMed] [Google Scholar]
- Roth J. C., Kelch R. P., Kaplan S. L., Grumbach M. M. FSH and LH response to luteinizing hormone-releasing factor in prepubertal and pubertal children, adult males and patients with hypogonadotropic and hypertropic hypogonadism. J Clin Endocrinol Metab. 1972 Dec;35(6):926–930. doi: 10.1210/jcem-35-6-926. [DOI] [PubMed] [Google Scholar]
- Santen R. J., Paulsen C. A. Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. J Clin Endocrinol Metab. 1973 Jan;36(1):47–54. doi: 10.1210/jcem-36-1-47. [DOI] [PubMed] [Google Scholar]
- Sparkes R. S., Simpson R. W., Paulsen C. A. Familial hypogonadotropic hypogonadism with anosmia. Arch Intern Med. 1968 Jun;121(6):534–538. [PubMed] [Google Scholar]
- TILLMAN W. G. Alopecia congenita: report of two families. Br Med J. 1952 Aug 23;2(4781):428–428. doi: 10.1136/bmj.2.4781.428. [DOI] [PMC free article] [PubMed] [Google Scholar]
- UTIGER R. D. RADIOIMMUNOASSAY OF HUMAN PLASMA THYROTROPIN. J Clin Invest. 1965 Aug;44:1277–1286. doi: 10.1172/JCI105234. [DOI] [PMC free article] [PubMed] [Google Scholar]
- VOLPE R., METZLER W. S., JOHNSTON M. W. Familial hypogonadotrophic eunuchoidism with cerebellar ataxia. J Clin Endocrinol Metab. 1963 Jan;23:107–115. doi: 10.1210/jcem-23-1-107. [DOI] [PubMed] [Google Scholar]


