{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T22:40:34Z","timestamp":1695508834267},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,6,25]],"date-time":"2014-06-25T00:00:00Z","timestamp":1403654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>In search of phenotypic cues that would allow early detection of <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>allmann syndrome (<jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>), we evaluated the paediatric phenotypes in a series of females with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design, Patients and Measurements<\/jats:title><jats:p>In this retrospective cohort study, we investigated childhood growth in six females with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> due to mutations in <jats:italic><jats:styled-content style=\"fixed-case\">FGFR<\/jats:styled-content>1<\/jats:italic> and evaluated their reproductive phenotypes later in life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>While growth during early infancy and childhood was within normal limits, a decreasing trend in height <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> already from mid\u2010childhood occurred in most patients. The lowest height <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> (mean, \u22121\u00b72 <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>) occurred between 14 and 15\u00a0years of age, before the start of hormone replacement therapy. As adults, these women required assisted reproductive techniques for fertility. One of the probands passed on her G48S mutation to her son, who showed normal reproductive hormone levels during the minipuberty of infancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Early diagnosis of female <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> remains a challenge as early phenotypic signs, apart from anosmia, are scarce. Females with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> exhibit a slight reduction in growth rate during mid\u2010childhood, but normal growth rate during the minipuberty of infancy, despite congenital lack of ovarian oestrogen. Women harbouring <jats:italic><jats:styled-content style=\"fixed-case\">FGFR<\/jats:styled-content>1<\/jats:italic> mutations will have 50% chance of passing on the gene defect to their offspring. We recommend genetic counselling to all females with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> to be carried out as a part of family planning.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12504","type":"journal-article","created":{"date-parts":[[2014,5,19]],"date-time":"2014-05-19T17:31:27Z","timestamp":1400520687000},"page":"122-126","source":"Crossref","is-referenced-by-count":8,"title":["Childhood growth of females with <scp>K<\/scp>allmann syndrome and <i><scp>FGFR<\/scp>1<\/i> mutations"],"prefix":"10.1111","volume":"82","author":[{"given":"Matti","family":"Hero","sequence":"first","affiliation":[{"name":"Children's Hospital Helsinki University Central Hospital (HUCH) Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eeva\u2010Maria","family":"Laitinen","sequence":"additional","affiliation":[{"name":"Children's Hospital Helsinki University Central Hospital (HUCH) Helsinki Finland"},{"name":"Institute of Biomedicine\/Physiology University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tero","family":"Varimo","sequence":"additional","affiliation":[{"name":"Children's Hospital Helsinki University Central Hospital (HUCH) Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsi","family":"Vaaralahti","sequence":"additional","affiliation":[{"name":"Children's Hospital Helsinki University Central Hospital (HUCH) Helsinki Finland"},{"name":"Institute of Biomedicine\/Physiology University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Tommiska","sequence":"additional","affiliation":[{"name":"Children's Hospital Helsinki University Central Hospital (HUCH) Helsinki Finland"},{"name":"Institute of Biomedicine\/Physiology University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taneli","family":"Raivio","sequence":"additional","affiliation":[{"name":"Children's Hospital Helsinki University Central Hospital (HUCH) Helsinki Finland"},{"name":"Institute of Biomedicine\/Physiology University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0039450"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0600962103"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-4116"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-41"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-2639"},{"key":"e_1_2_7_7_1","volume-title":"Growth at Adolescence","author":"Tanner J.","year":"1962"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1990.tb11503.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/030144600282361"},{"key":"e_1_2_7_10_1","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1111\/j.1651-2227.1990.tb11502.x","article-title":"Variation of growth in length and weight of children. 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