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With the introduction of non\u2010invasive prenatal screening, the diagnostic pattern will require an updated description of the clinical and biochemical presentation of infants with Klinefelter syndrome. In the first months of life, the hypothalamic\u2013pituitary\u2013gonadal (HPG)\u2010axis is transiently activated in healthy males during the so\u2010called minipuberty. This period represents a \u201cwindow of opportunity\u201d for evaluation of the HPG\u2010axis before puberty and without stimulation tests. Infants with Klinefelter syndrome present with a hormonal surge during the minipuberty. However, only a limited number of studies exist, and the results are contradictory. Further studies are needed to clarify whether infants with Klinefelter syndrome present with impaired testosterone production during the minipuberty. The aim of this review is to describe the clinical and biochemical characteristics of the neonate and infant with Klinefelter syndrome with special focus on the minipuberty and to update the clinical recommendations for Klinefelter syndrome during infancy.<\/jats:p>","DOI":"10.1002\/ajmg.c.31794","type":"journal-article","created":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T03:08:36Z","timestamp":1590980916000},"page":"320-326","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Minipuberty in Klinefelter syndrome: Current status and future directions"],"prefix":"10.1002","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7885-7467","authenticated-orcid":false,"given":"Lise","family":"Aksglaede","sequence":"first","affiliation":[{"name":"Department of Growth and Reproduction, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0304-9550","authenticated-orcid":false,"given":"Shanlee M.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado School of Medicine  Aurora Colorado USA"},{"name":"eXtraordinarY Kids Program Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith L.","family":"Ross","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Thomas Jefferson University  Philadelphia Pennsylvania USA"},{"name":"DuPont Hospital for Children  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0534-4350","authenticated-orcid":false,"given":"Anders","family":"Juul","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2011.02246.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1207"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-07-0310"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1426"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2014.00015"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.83.2.4603"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb01356.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0974"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1079"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0976-2"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2013.202663"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70244-1"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.02066"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0697"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021491"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0121"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1909"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.1.7923"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-2103"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-42-1-9"},{"key":"e_1_2_9_22_1","first-page":"103","article-title":"Involution of human fetal Leydig cells. 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