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Findings in the affected sibs also included a narrow forehead, synophrys, micrognathia, abnormally folded pinnae, early loss of teeth in three, cubitus valgus in two, genu valgum, gynecomastia, and undescended testes in one. All sibs had normal chromosomes. Results of tests for growth hormone release and adrenocortical function were normal. Luteinizing hormone releasing hormone (LHRH) and human chorionic gonadotropin (hCG) stimulation tests were consistent with primary gonadal failure. Testicular biopsy, performed on two affected males, was normal in one and showed focal atrophy with decreased spermatogenesis in the other. The patients manifest a phenotype different from all other known types of hypergonadotropic hypogonadism and appear to represent a new MCA\/MR syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320220319","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:00:52Z","timestamp":1118520052000},"page":"599-608","source":"Crossref","is-referenced-by-count":19,"title":["Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: A new syndrome"],"prefix":"10.1002","volume":"22","author":[{"given":"Mohamad A.","family":"Mikati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samir S.","family":"Najjar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itaf F.","family":"Sahli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vazken M.","family":"Der Kaloustian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafik E.","family":"Melhem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"5","volume-title":"Handbook of Endocrine Tests in Adults and Children","author":"Alsever RN","year":"1978"},{"key":"e_1_2_1_3_1","first-page":"76","volume-title":"The Harriet Lane Handbook","author":"Biller JA","year":"1981"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-47-3-572"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197508000-00026"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-50-5-826"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1542\/peds.53.6.929","article-title":"A review of growth hormone stimulation tests in children","volume":"53","author":"Frasier SD","year":"1974","journal-title":"Pediatrics"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180319"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1978.tb08409.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.1.66"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)33675-6"},{"key":"e_1_2_1_12_1","first-page":"71A","article-title":"Inherited deficiency of gonadotropin receptors in Leydig cells: A new form of male pseudohermaphroditism (MP)","volume":"27","author":"Perez\u2010Palacios G","year":"1975","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-41-5-894"},{"key":"e_1_2_1_14_1","volume-title":"Recognizable Patterns of Human Malformation","author":"Smith DW","year":"1982"},{"key":"e_1_2_1_15_1","first-page":"1","article-title":"Genetic forms of hypogonadism in the male","volume":"3","author":"Sumitt RL","year":"1979","journal-title":"Prog Med Genet"},{"key":"e_1_2_1_16_1","first-page":"168","volume-title":"The LH\u2010Releasing Hormone","author":"Thorner MD","year":"1980"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80349-2"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80350-9"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320220319","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320220319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T20:16:44Z","timestamp":1697833004000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320220319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,11]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1985,11]]}},"alternative-id":["10.1002\/ajmg.1320220319"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320220319","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,11]]}}}