{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:10:05Z","timestamp":1762474205336,"version":"build-2065373602"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T00:00:00Z","timestamp":1623024000000},"content-version":"vor","delay-in-days":157,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>\n                    <jats:italic>Background<\/jats:italic>\n                    . Growth hormone (GH) treatment increases the adult height of short children born small for gestational age (SGA). Catch\u2010up growth is associated with a younger age, shorter height, and prepubertal status at the onset of GH treatment. We report a 12 11\/12\u2010year\u2010old girl born SGA who received GH for 5 years without catch\u2010up growth and was diagnosed with Noonan Syndrome (NS).\n                    <jats:italic>Results<\/jats:italic>\n                    . A 5\u2010year\u2010and\u20109\u2010month\u2010old 46, XX girl born SGA was started on GH treatment at a dose of 0.32\u2009mg\/kg\/week. Her midparental target height is 158.6\u2009cm. Endocrine work up showed an IGF\u20101 level 69\u2009ng\/ml (Normal (N): 55\u2013238\u2009ng\/ml), IGFBP3 2.6\u2009mg\/L (N: 1.9\u20135.2\u2009mg\/L), TSH 3.2\u2009mIU\/L (N: 0.35\u20135.5\u2009mIU\/L), and a normal skeletal survey. Height was 96\u2009cm (0.1%; Ht SDS \u22122.9), weight 14\u2009kgs (1%; Wt SDS \u22122.3), and Tanner 1 breast and pubic hair were observed. Due to the poor catch\u2010up growth on GH treatment, she was referred to Genetics to elucidate genetic or syndromic causes of short stature. She was noted to have posteriorly rotated ears and slight down slanting of the palpebral fissures. Genetic findings showed a heterozygous pathogenic variant in\n                    <jats:italic>PTPN11<\/jats:italic>\n                    (c.922A\u2009&gt;\u2009G (p.Asn308Asp)) diagnostic for NS. This finding is de novo given negative parental testing. She was noted to have a heterozygous missense variant of unknown significance (VUS) in\n                    <jats:italic>FGFR3<\/jats:italic>\n                    : c.746C\u2009&gt;\u2009A (p.Ser249Tyr).\n                    <jats:italic>FGFR3<\/jats:italic>\n                    is associated with multiple skeletal dysplasias including thanatophoric dysplasia, achondroplasia, and Crouzon syndrome and hypochondroplasia. Clinical correlation is poor for these syndromes.\n                    <jats:italic>Conclusion<\/jats:italic>\n                    . Diminished catch\u2010up growth and response to GH treatment in a child born SGA led to the diagnosis of NS. The concomitant diagnosis of SGA and NS may have affected the responsiveness of this child to the growth promoting effect of GH treatment.\n                  <\/jats:p>","DOI":"10.1155\/2021\/5571524","type":"journal-article","created":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T19:35:50Z","timestamp":1623094550000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Lack of Catch\u2010Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic\n                    <i>PTPN11<\/i>\n                    Variant"],"prefix":"10.1155","volume":"2021","author":[{"given":"Daniel J.","family":"Olivieri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren J.","family":"Massingham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer L.","family":"Schwab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1691-2293","authenticated-orcid":false,"given":"Jose Bernardo","family":"Quintos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,7]]},"reference":[{"key":"e_1_2_7_1_2","unstructured":"MandyG. 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