{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:13:01Z","timestamp":1759687981257,"version":"build-2065373602"},"reference-count":51,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,6]]},"abstract":"<jats:p>A 21-year-old phenotypic female with a 46,XY chromosome complement and gonadal absence was studied. Basal levels of plasma immunoreactive luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and oestradiol were measured. Pituitary sensitivity and reserve was evaluated by the exogenous administration of synthetic luteinizing hormone-releasing hormone. The episodic release of gonadotrophins was assessed by measuring plasma LH and FSH in plasma samples obtained at 20-minute intervals for a 4-hour period. Endocrine gonadal function was evaluated by a stimulation test with human chorionic gonadotrophin for 3 days. The results showed: a) persistently raised plasma levels of both LH and FSH; b) a pulsatile pattern of release of both gonadotrophins and a normal pituitary response to the synthetic hypothalamic decapeptide; and c) extremely low levels of circulating testosterone and oestradiol with a lack of response to the HCG stimulus. A careful exploratory laparotomy revealed absence of uterus, Fallopian tubes, the Mullerian portion of the vagina, and gonads. No Wolffian derivatives were found. A dissociation of testosterone and the so-called Jost substance effects during early sexual development may explain the findings in this unusual abnormality. The term 'XY gonadal absence syndrome' including five types of variants to designate this condition is proposed.<\/jats:p>","DOI":"10.1136\/jmg.13.3.242","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"242-246","source":"Crossref","is-referenced-by-count":11,"title":["Pseudohermaphroditism due to XY gonadal absence syndrome."],"prefix":"10.1136","volume":"13","author":[{"given":"S K","family":"Alfaro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Saavedra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Ochoa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"P\u00e9rez-Palacios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000130130","article-title":"Localisation of heterochromatin in human chromosomes","volume":"10","author":"Arrighi, F.E.; Hsu, T.C.","year":"1971","unstructured":"Arrighi, F. E. and Hsu, T. C. (1971). Localisation of heterochromatin in human chromosomes. Cytogenetics, 10, 81-86.","journal-title":"Cytogenetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1136\/jmg.10.3.296","article-title":"A new case of trisomy for the short arm of No","volume":"9","author":"Baccichetti, C.; Tenconi, R.","year":"1973","unstructured":"Baccichetti, C. and Tenconi, R. (1973). A new case of trisomy for the short arm of No. 9 chromosome. Journal of Medical Genetics, 10, 296-299.","journal-title":"Journal of Medical Genetics; chromosome"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/newbio238122a0","article-title":"Staining of some specific regions of human chromosomes, particularly the secondary constriction region of no. 9","volume":"238","author":"Bobrow, M.; Madan, K.; Pearson, P.L.","year":"1972","unstructured":"Bobrow, M., Madan, K., and Pearson, P. L. (1972). Staining of some specific regions of human chromosomes, particularly the secondary constriction region of no. 9. Nature New Biology, 238, 122-124.","journal-title":"Nature New Biology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0022-3476(74)80297-0","article-title":"Trisomy 9 mosaicism in a newborn infant with multiple malformations. J3ournal of","volume":"85","author":"Bowen, P.; Ying, K.L.; Chung, G.S.H.","year":"1974","unstructured":"Bowen, P., Ying, K. L., and Chung, G. S. H. (1974). Trisomy 9 mosaicism in a newborn infant with multiple malformations. J3ournal of Pediatrics, 85, 95-97.","journal-title":"Pediatrics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1399-0004.1974.tb00640.x","article-title":"47, XY, t (9p+; llq+) in a male infant with multiple malformations","volume":"6","author":"Dinno, N.D.; Silvey, G.L.; Weisskopf, B.","year":"1974","unstructured":"Dinno, N. D., Silvey, G. L., and Weisskopf, B. (1974). 47,XY,t (9p+;llq+) in a male infant with multiple malformations. Clinical Genetics, 6, 125-131.","journal-title":"Clinical Genetics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1136\/jmg.10.2.184","article-title":"A case of trisomy 9","volume":"10","author":"Feingold, M.; Atkins, L.","year":"1973","unstructured":"Feingold, M. and Atkins, L. (1973). A case of trisomy 9. Journal of Medical Genetics, 10, 184-187.","journal-title":"Journal of Medical Genetics"},{"year":"1974","author":"Fujita, H.; Tatsuo, A.; Yamamoto, K.; Furuyama, J.","key":"ref_7","unstructured":"Fujita, H., Tatsuo, A., Yamamoto, K., and Furuyama, J. (1974)."},{"key":"ref_8","first-page":"180","article-title":"mosaicism with multiple congenital anomalies","volume":"9","author":"Haslam, R.H.A.; Broske, S.P.; Moore, C.M.; Thomas, G.H.; Neill, C.A.","year":"1973","unstructured":"Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., and Neill, C. A. (1973). Trisomy 9 mosaicism with multiple congenital anomalies. J'ouirnal of Medical Genetics, 10, 180-184.","journal-title":"Trisomy"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/j.1399-0004.1972.tb04271.x","article-title":"Chromosome survey of a hospital for the mentally subnormal Part 2: autosome abnormalities","volume":"3","author":"Newton, M.S.; Cunningham, C.; Jacobs, P.A.; Price, W.H.; Fraser, I.A.","year":"1972","unstructured":"Newton, M. S., Cunningham, C., Jacobs, P. A., Price, W. H., and Fraser, I. A. (1972). Chromosome survey of a hospital for the mentally subnormal Part 2: autosome abnormalities. Clinical Genetics, 3, 226-248.","journal-title":"Clinical Genetics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/S0022-3476(74)80296-9","article-title":"Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(l5p +; 9p -) in three generations","volume":"85","author":"Podruch, P.E.; Weisskopf, B.","year":"1974","unstructured":"Podruch, P. E. and Weisskopf, B. (1974). Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(l5p +;9p -) in three generations. Journal of Pediatrics, 85, 92-95.","journal-title":"Journal of Pediatrics"},{"key":"ref_11","first-page":"129","article-title":"Analyse de la trisomie 9p par denaturation menagee. A propos d'un nouveau cas","volume":"18","author":"Rethore, M.O.; Hoehn, H.; Rott, H.D.; Courtier, J.; Dutrillaux, B.; Lejeune, J.","year":"1973","unstructured":"Rethore, M. O., Hoehn, H., Rott, H. D., Courtier, J., Dutrillaux, B. and Lejeune, J. (1973). Analyse de la trisomie 9p par denaturation menagee. A propos d'un nouveau cas. Human Genetics, 18, 129-138.","journal-title":"Human Genetics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"2","author":"Seabright, M.A.","year":"1971","unstructured":"Seabright, M. A. (1971). A rapid banding technique for human chromosomes. Lancet, 2, 971-972.","journal-title":"Lancet"},{"key":"ref_13","first-page":"233241","article-title":"Partial trisomy 9q: a new syndrcme","volume":"29","author":"Turleau, C.; de Crouchy, J.; Chavin-Colin, F.; Roubin, M.; Brissaud, P.E.; Repesse, G.; Safar, A.; Borniche, P.","year":"1975","unstructured":"Turleau, C., de Crouchy, J., Chavin-Colin, F., Roubin, M., Brissaud, P. E., Repesse, G., Safar, A., and Borniche, P. (1975). Partial trisomy 9q: a new syndrcme. Human Genetics, 29, 233241.","journal-title":"Human Genetics"},{"key":"ref_14","first-page":"153","article-title":"Four cases of 9p trisomy resulting from a balanced familial translocation","volume":"18","author":"Zaremba, J.; Zdienicka, E.; Glogowska, I.; Abramowicz, T.; Taracha, B.","year":"1974","unstructured":"Zaremba, J., Zdienicka, E., Glogowska, I., Abramowicz, T., and Taracha, B. (1974). Four cases of 9p trisomy resulting from a balanced familial translocation (9:15)(ql3qll). Clinical picture and cytogenetic findings. J'ournal of Mental Deficiency Research, 18, 153-190.","journal-title":"J'ournal of Mental Deficiency Research; Clinical picture and cytogenetic findings"},{"key":"ref_15","article-title":"as the XY gonadal agenesis syndrome (Sarto and Opitz","volume-title":"have reviewed the clinical course of the reported cases of patients with this syndrome and pointed out the importance of endocrine gonadal studies, and suggested the possibility that this syndrome represents a form of dysgenetic male pseudohermaphroditism with a scant amount of functioning testicular tissue. Very recently we have demonstrated in such an adult patient a complete lack of testicular steroidogenesis, with a concomitant increase in the circulating levels of pituitary gonadotrophins","author":"Parks et al","year":"1973","unstructured":"as the XY gonadal agenesis syndrome (Sarto and Opitz, 1973). Parks et al (1974) have reviewed the clinical course of the reported cases of patients with this syndrome and pointed out the importance of endocrine gonadal studies, and suggested the possibility that this syndrome represents a form of dysgenetic male pseudohermaphroditism with a scant amount of functioning testicular tissue. Very recently we have demonstrated in such an adult patient a complete lack of testicular steroidogenesis, with a concomitant increase in the circulating levels of pituitary gonadotrophins (Rios et al, 1974)."},{"key":"ref_16","article-title":"Material and methods Plasma LH and FSH were measured by doubleantibody radioimmunoassays (RIA) as previously described by Mendoza et","volume-title":"47.0+6 and 160.0+ 8 ng\/ml, respectively; Plasma samples were assayed in duplicate. Results were expressed as nanograms (ng) of LER-907 \/ml. The coefficients of variation of these assays were less than 12%. LH and FSH values for normal males are","author":"al","year":"1972","unstructured":"Material and methods Plasma LH and FSH were measured by doubleantibody radioimmunoassays (RIA) as previously described by Mendoza et al (1972). Plasma samples were assayed in duplicate. Results were expressed as nanograms (ng) of LER-907 \/ml. The coefficients of variation of these assays were less than 12%. LH and FSH values for normal males are 47.0+6 and 160.0+ 8 ng\/ml, respectively."},{"key":"ref_17","article-title":"Plasma testosterone and oestradiol were measured by hapten-RIA without chromatography as previously reported","volume-title":"Korenman et al","year":"1973","unstructured":"Plasma testosterone and oestradiol were measured by hapten-RIA without chromatography as previously reported (Pirke, 1973; Korenman et al, 1974). The sensitivity of these assays was 50 picograms (pg)\/ml. Testosterone and oestradiol values for normal males are 4.3 + 1.5 ng\/ml and 45 \u00b1 10 pg\/ml, respectively."},{"key":"ref_18","article-title":"Synthetic LH-releasing hormone (LH-RH) was kindly supplied by Hoechst","volume-title":"Buccal smear for chromatin X detection and chromosome studies were carried out according to the procedure described by Moorhead et","author":"Farbwerke, A.G.","year":"1960","unstructured":"Synthetic LH-releasing hormone (LH-RH) was kindly supplied by Hoechst Farbwerke, A.G. Buccal smear for chromatin X detection and chromosome studies were carried out according to the procedure described by Moorhead et al (1960)."},{"key":"ref_19","article-title":"A pulsatile pattern of release of both gonadotrophins (Fig. 1) similar to that found in patients with hypergonadotrophic hypogonadism of different origins","volume-title":"PerezPalacios et al, 1974) was observed. The plasma levels of FSH were always higher than those of LH, the ratio of FSH\/LH being 2.28. A lack of coincidence of the secretory episodes of both gonadotrophins was also observed","author":"Yen","year":"1972","unstructured":"A pulsatile pattern of release of both gonadotrophins (Fig. 1) similar to that found in patients with hypergonadotrophic hypogonadism of different origins (Root et al, 1972; Yen et al, 1972; Santen and Bardin, 1973; Kelch et al, 1973; PerezPalacios et al, 1974) was observed. The plasma levels of FSH were always higher than those of LH, the ratio of FSH\/LH being 2.28. A lack of coincidence of the secretory episodes of both gonadotrophins was also observed."},{"key":"ref_20","first-page":"patients","article-title":"occur in other hypergonadotrophic","author":"Kastin, Gual; Schally, 1972, Wagner","year":"1973","unstructured":"occur in other hypergonadotrophic patients (Kastin, Gual, and Schally, 1972; Wagner et al, 1973; Yen et al, 1973; Scaglia et al, 1974).","journal-title":"et al; Yen"},{"key":"ref_21","article-title":"A great variability in both the internal and external genitalia has been found in the few patients studied with this abnormality, and genetic and endocrine studies have been carried out only recently (Overzier and","author":"Rath, Scheibenreiter, and Thalhammer,","year":"1956","unstructured":"A great variability in both the internal and external genitalia has been found in the few patients studied with this abnormality, and genetic and endocrine studies have been carried out only recently (Overzier and Linden, 1956; Schoen, King, and Baritell, 1955; Philipp, 1956; Chaptal and Pages, 1958; Harnden and Stewart, 1959; Dewhurst, Paine, and Blanck, 1963; Overzier, 1963; Emson and Buckwold, 1965; Rath, Scheibenreiter, and Thalhammer, 1968; Parks et al, 1974; Rios et al, 1974). These heterogeneous characteristics suggest that different pathogenic mechanisms during","journal-title":"Buckwold; Emson and"},{"key":"ref_22","article-title":"This syndrome theoretically includes five different forms (Fig. 3) with a whole spectrum going from the complete absence of gonadal function during embryonic differentiation (true agonadism) to fetal gonadal function integrity","volume-title":"Kolodny et al, 1971), passing through the two types of incomplete agonadism and the mixed form of agonadism. We agree","author":"anorchia; Kirschner, Jacobs; Fraley","year":"1970","unstructured":"This syndrome theoretically includes five different forms (Fig. 3) with a whole spectrum going from the complete absence of gonadal function during embryonic differentiation (true agonadism) to fetal gonadal function integrity (anorchia) (Kirschner, Jacobs, and Fraley, 1970; Kolodny et al, 1971), passing through the two types of incomplete agonadism and the mixed form of agonadism. We agree with Parks et al (1974) that the name 'true agonadism' is a misnomer if it is used for all types of gonadal absence."},{"key":"ref_23","article-title":"The clinical and endocrine features observed in the patient reported in this paper are identical to those found in a similar case previously reported by our group","volume-title":"Both cases correspond to the incomplete type I form of gonadal absence","year":"1974","unstructured":"The clinical and endocrine features observed in the patient reported in this paper are identical to those found in a similar case previously reported by our group (Rios et al, 1974). Both cases correspond to the incomplete type I form of gonadal absence."},{"key":"ref_24","article-title":"No other affected member has been found in the family of most of the reported cases. However, since Overzier and Linden","volume-title":"found this syndrome in two sibs, the pattern of inheritance, if any, remains to be ascertained","year":"1956","unstructured":"No other affected member has been found in the family of most of the reported cases. However, since Overzier and Linden (1956) found this syndrome in two sibs, the pattern of inheritance, if any, remains to be ascertained."},{"key":"ref_25","first-page":"613","article-title":"Sur un cas de dysgenesie gonadique avec manifestations androgeniques","volume":"15","author":"Chaptal, J.J.; Pages, P.","year":"1958","unstructured":"Chaptal, J. J. and Pages, P. (1958). Sur un cas de dysgenesie gonadique avec manifestations androgeniques. Archives Franfaises de Pediatrie, 15, 613-618.","journal-title":"Archives Franfaises de Pediatrie"},{"key":"ref_26","first-page":"675680","article-title":"An XY female with absent gonads and vestigial pelvic organs","volume":"70","author":"Dewhurst, C.J.; Paine, C.G.; Blanck, C.E.","year":"1963","unstructured":"Dewhurst, C. J., Paine, C. G., and Blanck, C. E. (1963). An XY female with absent gonads and vestigial pelvic organs. Journal of Obstetrics and Gynaecology of the British Commonwealth, 70, 675680.","journal-title":"Journal of Obstetrics and Gynaecology of the British Commonwealth"},{"key":"ref_27","first-page":"1080","volume":"93","author":"Emson, H.E.; Buckwold, A.E.","year":"1965","unstructured":"Emson, H. E. and Buckwold, A. E. (1965). Agonadism. Canadian Medical Association Journal, 93, 1080-1083.","journal-title":"Agonadism. Canadian Medical Association Journal"},{"key":"ref_28","first-page":"2","article-title":"The chromosomes in a case of pure gonadal disgenesis","author":"Harnden, D.G.; Stewart, J.S.S.","year":"1959","unstructured":"Harnden, D. G. and Stewart, J. S. S. (1959). The chromosomes in a case of pure gonadal disgenesis. British Medical 7ournal 2, 1285-1287."},{"key":"ref_29","first-page":"201","article-title":"Clinical experience with hypothalamic releasing hormones","volume":"28","author":"Kastin, A.J.; Gual, C.; Schally, A.V.","year":"1972","unstructured":"Kastin, A. J., Gual, C., and Schally, A. V. (1972). Clinical experience with hypothalamic releasing hormones. Recent Progress in Hormone Research, 28, 201-227.","journal-title":"Recent Progress in Hormone Research"},{"key":"ref_30","article-title":"Episodic secretion of luteinizing hormone (LH) in adolescent patients with the syndrome of gonadal dysgenesis","author":"Kelch, R.P.; Conte, F.A.; Kaplan, S.L.; Grumbach, M.M.","year":"1973","unstructured":"Kelch, R. P., Conte, F. A., Kaplan, S. L., and Grumbach, M. M. (1973). Episodic secretion of luteinizing hormone (LH) in adolescent patients with the syndrome of gonadal dysgenesis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1056\/NEJM197001292820503","article-title":"Bilateral anorchia with persistent testosterone production","volume":"282","author":"Kirschner, M.A.; Jacobs, J.B.; Fraley, E.E.","year":"1970","unstructured":"Kirschner, M. A., Jacobs, J. B., and Fraley, E. E. (1970). Bilateral anorchia with persistent testosterone production. New England Journal of Medicine, 282, 240-244.","journal-title":"New England Journal of Medicine"},{"key":"ref_32","first-page":"479","article-title":"Anorchia. A variety of 'empty scrotum'","volume-title":"J7ournal of the American Medical Association","volume":"216","author":"Kolodny, H.D.; Kim, S.; Sherman, L.; Futterweit, W.; Benjamin, F.","year":"1971","unstructured":"Kolodny, H. D., Kim, S., Sherman, L., Futterweit, W., and Benjamin, F. (1971). Anorchia. A variety of 'empty scrotum'. J7ournal of the American Medical Association, 216, 479-482."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1210\/jcem-38-4-718","article-title":"Estradiol radioimmunoassay without chromatography. Procedure validation and normal values","volume":"38","author":"Korenman, S.G.; Stevens, R.H.; Carpenter, L.A.; Robb, M.; Niswender, G.D.; Sherman, B.M.","year":"1974","unstructured":"Korenman, S. G., Stevens, R. H., Carpenter, L. A., Robb, M., Niswender, G. D., and Sherman, B. M. (1974). Estradiol radioimmunoassay without chromatography. Procedure validation and normal values. Journal of Clinical Endocrinology and Metabolism, 38, 718-720.","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref_34","first-page":"221","article-title":"El uso de 125 I en los procedimientos de cuantificaci6n de gonadotropinas hipofisiarias humanas","volume":"24","author":"Mendoza, F.; Perez, A.E.; Reynoso, E.; Perez-Palacios, G.","year":"1972","unstructured":"Mendoza, F., Perez, A. E., Reynoso, E., and Perez-Palacios, G. (1972). El uso de 125 I en los procedimientos de cuantificaci6n de gonadotropinas hipofisiarias humanas. Revista de Investigacion Clinica, 24, 221-233.","journal-title":"Revista de Investigacion Clinica"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leukocytes cultured from human peripheral blood","volume":"20","author":"Moorhead, P.S.; Nowel, P.C.; Mellman, W.J.; Battips, D.M.; Hungerford, L.","year":"1960","unstructured":"Moorhead, P. S., Nowel, P. C., Mellman, W. J., Battips, D. M., and Hungerford, L. (1960). Chromosome preparations of leukocytes cultured from human peripheral blood. Experimental Cell Research, 20, 613-616.","journal-title":"Experimental Cell Research"},{"key":"ref_36","first-page":"340345","article-title":"True agonadism","volume-title":"Intersexuality","author":"Overzier, C.","year":"1963","unstructured":"Overzier, C. (1963). True agonadism. In Intersexuality, pp. 340345. Ed. by C. Overzier. Academic Press, New York."},{"key":"ref_37","first-page":"215","article-title":"Echter agonadisinus (anorchisinus) bei Geschwistern","volume":"142","author":"Overzier, C.; Linden, H.","year":"1956","unstructured":"Overzier, C. and Linden, H. (1956). Echter agonadisinus (anorchisinus) bei Geschwistern. Gynaecologia, 142, 215-225.","journal-title":"Gynaecologia"},{"key":"ref_38","first-page":"375","article-title":"True agonadism: a misnomer?","volume":"84","author":"Parks, G.A.; Dumars, K.W.; Limbeck, G.A.; Quinlivan, W.L.; New, M.I.","year":"1974","unstructured":"Parks, G. A., Dumars, K. W., Limbeck, G. A., Quinlivan, W. L., and New, M. I. (1974). True agonadism: a misnomer? J'ournal of Pediatrics, 84, 375-380.","journal-title":"J'ournal of Pediatrics"},{"key":"ref_39","article-title":"Pituitary LH and FSH secretion and responsiveness in elderly women. In VIII Panamerican Congress of Endocrinology, Buenos Aires, Argentina (abstract No. 21)","author":"Perez-Palacios, G.; Scaglia, H.E.; Medina, M.; Pinto-Ferreira, A.L.; Vazquez, G.; Gual, C.","year":"1974","unstructured":"Perez-Palacios, G., Scaglia, H. E., Medina, M., Pinto-Ferreira, A. L., Vazquez, G., and Gual, C. (1974). Pituitary LH and FSH secretion and responsiveness in elderly women. In VIII Panamerican Congress of Endocrinology, Buenos Aires, Argentina (abstract No. 21)."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1055\/s-0028-1115119","article-title":"Die Fehibildungen der Keimdruese","volume":"81","author":"Philipp, E.","year":"1956","unstructured":"Philipp, E. (1956). Die Fehibildungen der Keimdruese. Deutsche Medizinische Wochenschrift, 81, 1290.","journal-title":"Deutsche Medizinische Wochenschrift"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1530\/acta.0.0740168","article-title":"A comparison of three methods of measuring testosterone in immunoassay without chromatography and radioimmunoassay including thin layer chromatography","volume":"74","author":"Pirke, K.M.","year":"1973","unstructured":"Pirke, K. M. (1973). A comparison of three methods of measuring testosterone in immunoassay without chromatography and radioimmunoassay including thin layer chromatography. Acta Endocrinologica (Kbh.), 74, 168.","journal-title":"Acta Endocrinologica (Kbh.)"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1055\/s-0028-1105108","article-title":"Agonadismus (anorchismus) bei einem sechs Jahre Altn Kindreded","volume":"93","year":"1968","unstructured":"Rath, F., Scheibenreiter, S., and Thalhammer, 0. (1968). Agonadismus (anorchismus) bei einem sechs Jahre Altn Kindreded. Deutsche Medizinishe Wochenschrift, 93, 633.","journal-title":"Deutsche Medizinishe Wochenschrift"},{"journal-title":"Journal metabolic of Clinical","author":"gonadal Endocrine; agenesis","key":"ref_43","unstructured":"gonadal Endocrine and agenesis. Journal metabolic of Clinical"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1210\/jcem-35-5-700","article-title":"Episodic secretion of luteinizing and follicle-stimulating hormones in agonadal and hypogonadal adolescents and adults","volume":"35","author":"Root, A.; De Cherney, A.; Russ, D.; Duckett, G.; Ram6n-Garcia, C.; Wallach, E.","year":"1972","unstructured":"Root, A., De Cherney, A., Russ, D., Duckett, G., Ram6n-Garcia, C. and Wallach, E. (1972). Episodic secretion of luteinizing and follicle-stimulating hormones in agonadal and hypogonadal adolescents and adults. Journal of Clinical Endocrinology and Metabolism, 35, 700-704.","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2617","DOI":"10.1172\/JCI107454","article-title":"Episodic luteinizing hormone secretion in man. Pulse analysis, clinical interpretation, physiologic mechanisms","volume":"52","author":"Santen, R.J.; Bardin, C.W.","year":"1973","unstructured":"Santen, R. J. and Bardin, C. W. (1973). Episodic luteinizing hormone secretion in man. Pulse analysis, clinical interpretation, physiologic mechanisms. J'ournal of Clinical Investigation, 52, 2617-2638.","journal-title":"J'ournal of Clinical Investigation"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmg.10.3.288","article-title":"The XY gonadal agenesis syndrome","volume":"10","author":"Sarto, G.E.; Opitz, J.M.","year":"1973","unstructured":"Sarto, G. E. and Opitz, J. M. (1973). The XY gonadal agenesis syndrome. Journal of Medical Genetics, 10, 288-293.","journal-title":"Journal of Medical Genetics"},{"key":"ref_47","first-page":"347","article-title":"LH-pituitary responsiveness after administration of LH-RH in amenorrheic patients","volume":"26","author":"Scaglia, H.E.; Simon, J.M.; Scaglia, A.N.; del Papa, A.; M., Bermudez; Girotto, C.; Aparicio, N.J.","year":"1974","unstructured":"Scaglia, H. E., Simon, J. M., Scaglia, A. N., del Papa, A., Bermudez M., Girotto, C., and Aparicio, N. J. (1974). LH-pituitary responsiveness after administration of LH-RH in amenorrheic patients. Revista de Investigacion Clinica, 26, 347-353.","journal-title":"Revista de Investigacion Clinica"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1542\/peds.16.3.363","article-title":"Pseudohermaphroditism and multiple congenital anomalies","volume":"16","author":"Schoen, E.J.; King, A.L.; Baritell, A.L.","year":"1955","unstructured":"Schoen, E. J., King, A. L., and Baritell, A. L. (1955). Pseudohermaphroditism and multiple congenital anomalies. Pediatrics, 16, 363-369.","journal-title":"Pediatrics"},{"year":"1973","author":"Wagner, H.; Bockel, K.; Hrubesch, M.; Grete, G.","key":"ref_49","unstructured":"Wagner, H., Bockel, K., Hrubesch, M., and Grete, G. (1973.)"},{"key":"ref_50","first-page":"217229","volume":"263","author":"Yen, S.S.C.; Rebar, R.; Vandeberg, G.; Naftolin, F.; Judd, H.; Ehara, Y.; Ryan, K.J.; Rivier, J.; Amoss, M.; Guillemin, R.","year":"1973","unstructured":"Yen, S. S. C., Rebar, R., Vandeberg, G., Naftolin, F., Judd, H., Ehara, Y., Ryan, K. J., Rivier, J., Amoss, M., and Guillemin, R. (1973). In Hypothalamic Hypophysiotropic Hormones, pp. 217229. Ed. by C. Gual and E. Rosemberg. Excerpta Medica International Congress Series No. 263, Amsterdam.","journal-title":"Hypothalamic Hypophysiotropic Hormones; Rosemberg. Excerpta Medica International Congress Series"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1210\/jcem-35-6-897","article-title":"Gonadotropin dynamics in patients with gonadal dysgenesis. A model for the study of gonadotropin regulation","volume":"35","author":"Yen, S.S.C.; Tsai, C.C.; Vandenberg, G.; Rebar, R.","year":"1972","unstructured":"Yen, S. S. C., Tsai, C. C., Vandenberg, G., and Rebar, R. (1972). Gonadotropin dynamics in patients with gonadal dysgenesis. A model for the study of gonadotropin regulation. Journal of Clinical Endocrinology and Metabolism, 35, 897-904.","journal-title":"Journal of Clinical Endocrinology and Metabolism"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.3.242","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:54:44Z","timestamp":1759686884000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.3.242"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,6]]},"references-count":51,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1976,6,1]]},"published-print":{"date-parts":[[1976,6]]}},"alternative-id":["10.1136\/jmg.13.3.242"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.3.242","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1976,6]]}}}