{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T19:59:15Z","timestamp":1777751955463,"version":"3.51.4"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0408_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Sturge\u2013Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and\u00a0is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who\u00a0exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the\u00a0age of 20 despite the absence of radiographic findings in\u00a0the pituitary and hypothalamus.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0408_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 20-year-old male with SWS with epilepsy and Klippel\u2013Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0408_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in\u00a0patients with SWS despite the absence of radiographic findings.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0408","type":"journal-article","created":{"date-parts":[[2023,11,25]],"date-time":"2023-11-25T16:40:31Z","timestamp":1700930431000},"page":"80-83","source":"Crossref","is-referenced-by-count":1,"title":["Hypothalamic-pituitary dysfunction in Sturge\u2013Weber syndrome: case report and review of the literature"],"prefix":"10.1515","volume":"37","author":[{"given":"Somar A.","family":"Hadid","sequence":"first","affiliation":[{"name":"School of Medicine , New York Medical College , Valhalla , NY , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laila","family":"Noor","sequence":"additional","affiliation":[{"name":"Optum Health Services , Fishkill , NY , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamar","family":"Baer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Endocrinology , Montefiore Medical Center\/Albert Einstein College of Medicine , Bronx , NY , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald I.","family":"Jacobson","sequence":"additional","affiliation":[{"name":"School of Medicine , New York Medical College , Valhalla , NY , USA"},{"name":"Department of Pediatric Neurology , Maria Fareri Children\u2019s Hospital at Westchester Medical Center , Hawthorne , NY , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Brutsaert","sequence":"additional","affiliation":[{"name":"School of Medicine , New York Medical College , Valhalla , NY , USA"},{"name":"Department of Medicine, Division of Endocrinology , Westchester Medical Center , Hawthorne , NY , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,11,27]]},"reference":[{"key":"2024010910115252406_j_jpem-2023-0408_ref_001","unstructured":"Singh, AK, Keenaghan, M. 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