{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:02:33Z","timestamp":1792141353521,"version":"4.4.0"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6583,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gonadal function was evaluated in 100 home\u2010reared persons with Down syndrome (DS) including 53 boys and men and 47 girls and women. In order to definitively evaluate gondal function in our subjects, all patients with abnormal thyroid function were excluded from endocrine analysis.<\/jats:p><jats:p>Among the men, the frequency of hypospadias and cryptorchidism was similar to that of the general population. In both men and women, the ages for the onset and completion of puberty were also normal. However, among adult men with DS, the mean stretched penile length and the mean testicular volume were singnificantly below the mean value of normal men.<\/jats:p><jats:p>In the 23 men with DS, the mean serum levels of follicle\u2010stimulating hormone (FSH) and luteinizing hormone (LH) were significantly eleveted above the mean for normal men. By contrast, the mean plasma level of testosterone (T) was normal, suggesting a diagnosis of partial gonadal deficiency. Among the 14 women in the study, 6 had primary gonadal dysfunction. In prepubertal children, serum FSH levels in 3 boys and 5 girls were more than 2 SD above the mean for normal children, while serum levels of LH in 3 boys and 2 girls were abnormally elevated. When gonadal function was evaluated in male infantss, serum levels of FSH were above the normal in 6 of 11 subjects. Serum LH was abnormally elevated in 3 of 8 female infants.<\/jats:p><jats:p>Our data argue that primary gonadal deficiency is common in DS, that it is progressive from birht to adolescence, and that it is clearly manifest in adult patients.<\/jats:p>","DOI":"10.1002\/ajmg.1320270223","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:52:19Z","timestamp":1118544739000},"page":"449-458","source":"Crossref","is-referenced-by-count":92,"title":["Gonadal function in patients with Down syndrome"],"prefix":"10.1002","volume":"27","author":[{"given":"Ying\u2010Hui H.","family":"Hsiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary D.","family":"Berkovitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail L.","family":"Bland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude J.","family":"Migeon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C.","family":"Warren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"124","volume-title":"The Child With Mongolism","author":"Benda CE","year":"1960"},{"key":"e_1_2_1_3_1","first-page":"755","article-title":"Etiologic evaluation of male pseudohermaphroditism in infancy and childhood","volume":"138","author":"Berkovitz GD","year":"1984","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_4_1","first-page":"135","article-title":"Reproduction in Down syndrome","volume":"59","author":"Bovicelli L","year":"1982","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.2.98"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-29-1-12"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-40-4-670"},{"key":"e_1_2_1_8_1","first-page":"479","article-title":"Thyroid function in young children with Down syndrome","volume":"140","author":"Cutler AT","year":"1986","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_9_1","unstructured":"ForestMG(1986): Personal communication."},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107621"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.2.189"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000179141"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1978.tb17815.x"},{"key":"e_1_2_1_14_1","first-page":"594","article-title":"LH\u2010RH testing in men with Down's syndrome","volume":"88","author":"Horan RF","year":"1978","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_15_1","first-page":"371","article-title":"L'exploration des s\u00e9cr\u00e9tions gonadotropes et gonadiques dans les anomalies primitives des gonades et les pseudohermaphrodismes masculins avant et apr\u00e9s l'age de la pubert\u00e9","volume":"33","author":"Job JC","year":"1976","journal-title":"Arch Fr P\u00e9diatr"},{"key":"e_1_2_1_16_1","first-page":"156","article-title":"Micropenis. 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