{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T20:55:26Z","timestamp":1788555326310,"version":"build-2803163510"},"reference-count":45,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T00:00:00Z","timestamp":1630540800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014252","name":"Fondo Argentino Sectorial","doi-asserted-by":"publisher","award":["FS-PBIT\u00a012\/2013"],"award-info":[{"award-number":["FS-PBIT\u00a012\/2013"]}],"id":[{"id":"10.13039\/501100014252","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014252","name":"Fondo Argentino Sectorial","doi-asserted-by":"publisher","award":["FS BIO 05\/2017"],"award-info":[{"award-number":["FS BIO 05\/2017"]}],"id":[{"id":"10.13039\/501100014252","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006668","name":"Fondo para la Investigaci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","award":["PIDC\u00a032\/2017"],"award-info":[{"award-number":["PIDC\u00a032\/2017"]}],"id":[{"id":"10.13039\/501100006668","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006668","name":"Fondo para la Investigaci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","award":["PICT 2972\/2018"],"award-info":[{"award-number":["PICT 2972\/2018"]}],"id":[{"id":"10.13039\/501100006668","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002923","name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002923","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The diagnosis of male central (or hypogonadotropic) hypogonadism, typically based on low luteinizing hormone (LH) and testosterone levels, is challenging during childhood since both hormones are physiologically low from the sixth month until the onset of puberty. Conversely, follicle-stimulating hormone (FSH) and anti-M\u00fcllerian hormone (AMH), which show higher circulating levels during infancy and childhood, are not used as biomarkers for the condition. We report the case of a 7-year-old boy with a history of bilateral cryptorchidism who showed repeatedly low FSH and AMH serum levels during prepuberty. Unfortunately, the diagnosis could not be ascertained until he presented with delayed puberty at the age of 14 years. A gonadotropin-releasing hormone (GnRH) test showed impaired LH and FSH response. By then, his growth and bone mineralization were partially impaired. Gene panel sequencing identified a variant in exon 15 of FGFR1, affecting the tyrosine kinase domain of the receptor, involved in GnRH neuron migration and olfactory bulb morphogenesis. Testosterone replacement was started, which resulted in the development of secondary sexual characteristics and partial improvement of bone mineral density. This case illustrates the difficulty in making the diagnosis of central hypogonadism in boys during childhood based on classical criteria, and how serum FSH and AMH assessment may be helpful if it is suspected before the age of puberty, and confirm it using next-generation sequencing. The possibility of making an early diagnosis of central hypogonadism may be useful for a timely start of hormone replacement therapy, and to avoid delays that could affect growth and bone health as well as psychosocial adjustment.<\/jats:p>","DOI":"10.1210\/jendso\/bvab145","type":"journal-article","created":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T14:53:49Z","timestamp":1630594429000},"source":"Crossref","is-referenced-by-count":8,"title":["Diagnosis of Male Central Hypogonadism During Childhood"],"prefix":"10.1210","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6291-1518","authenticated-orcid":false,"given":"Romina P","family":"Grinspon","sequence":"first","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE), CONICET \u2013 FEI \u2013 Divisi\u00f3n de Endocrinolog\u00eda, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8073-2046","authenticated-orcid":false,"given":"Sebasti\u00e1n","family":"Castro","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE), CONICET \u2013 FEI \u2013 Divisi\u00f3n de Endocrinolog\u00eda, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco G","family":"Brunello","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE), CONICET \u2013 FEI \u2013 Divisi\u00f3n de Endocrinolog\u00eda, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"},{"name":"Departamento de Qu\u00edmica Biol\u00f3gica, Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Ciudad Universitaria, C1428EGA Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Sans\u00f3","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE), CONICET \u2013 FEI \u2013 Divisi\u00f3n de Endocrinolog\u00eda, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"},{"name":"Unidad de Medicina Traslacional, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0040-1210","authenticated-orcid":false,"given":"Mar\u00eda Gabriela","family":"Ropelato","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE), CONICET \u2013 FEI \u2013 Divisi\u00f3n de Endocrinolog\u00eda, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"},{"name":"Unidad de Medicina Traslacional, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1100-3843","authenticated-orcid":false,"given":"Rodolfo A","family":"Rey","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE), CONICET \u2013 FEI \u2013 Divisi\u00f3n de Endocrinolog\u00eda, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"},{"name":"Unidad de Medicina Traslacional, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, C1425EFD Buenos Aires, Argentina"},{"name":"Universidad de Buenos Aires, Facultad de Medicina, Departamento de Histolog\u00eda, Embriolog\u00eda, Biolog\u00eda Celular y Gen\u00e9tica, C1121ABG Buenos Aires, 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