{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:23Z","timestamp":1791353543709,"version":"4.3.1"},"reference-count":35,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,2,1]]},"abstract":"<jats:p>Clinical presentation of hypopituitarism in the neonate may be variable, ranging from absent to severe nonspecific symptoms and may be life-threatening in patients with adrenocorticotropic hormone deficiency. The LIM homeobox gene 4 (LHX4) transcription factor regulates early embryonic development of the anterior pituitary gland. Autosomal dominant mutations in LHX4 cause congenital hypopituitarism with variable combined pituitary hormone deficiency (CPHD). We report on a neonate with unexplained heart failure and minor physical anomalies, suggesting a midline defect. She was diagnosed with complete CPHD. Cardiac function was rescued by replacement with hydrocortisone and thyroxine; hypoglycaemia stopped under growth hormone therapy. Magnetic resonance imaging revealed a dysgenetic pituitary gland suggesting an early developmental defect. Array comparative genomic hybridization showed a maternally inherited 1.5-megabase microdeletion in 1q25.2q25.3, including the LHX4 gene. Haploinsufficiency of LHX4 likely explains the predominant pituitary phenotype in the proposita and we suggest variable intrafamilial penetrance of the inherited microdeletion. To the best of our knowledge, we are the first to report on heart failure as a rare nonspecific symptom of treatable CPHD in the newborn. Variably penetrant pituitary insufficiency, including this severe and atypical presentation, can be correlated with LHX4 insufficiency and highlights the role of LHX4 for pituitary development.<\/jats:p>","DOI":"10.1542\/peds.2010-3849","type":"journal-article","created":{"date-parts":[[2012,1,10]],"date-time":"2012-01-10T01:45:12Z","timestamp":1326159912000},"page":"e529-e534","source":"Crossref","is-referenced-by-count":25,"title":["Panhypopituitarism Presenting as Life-Threatening Heart Failure Caused by an Inherited Microdeletion in 1q25 Including <i>LHX4<\/i>"],"prefix":"10.1542","volume":"129","author":[{"given":"Isabel","family":"Filges","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Department of Biomedicine, and Divisions of"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bischof-Renner","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benno","family":"R\u00f6thlisberger","sequence":"additional","affiliation":[{"name":"Center of Laboratory Medicine, Cantonal Hospital, Aarau, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Potthoff","sequence":"additional","affiliation":[{"name":"Neonatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"Glanzmann","sequence":"additional","affiliation":[{"name":"Neonatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00eblle","family":"G\u00fcnthard","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Schneider","sequence":"additional","affiliation":[{"name":"Pediatric Radiology, University Children\u2019s Hospital, Basel, Switzerland; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas R.","family":"Huber","sequence":"additional","affiliation":[{"name":"Center of Laboratory Medicine, Cantonal Hospital, Aarau, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urs","family":"Zumsteg","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Miny","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Department of Biomedicine, and Divisions of"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabor","family":"Szinnai","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2012,2,1]]},"reference":[{"issue":"11","key":"2021120903085936400_B1","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.earlhumdev.2009.08.057","article-title":"Genetic forms of hypopituitarism and their manifestation in the neonatal period","volume":"85","author":"Alatzoglou","year":"2009","journal-title":"Early Hum Dev"},{"issue":"1","key":"2021120903085936400_B2","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1159\/000077661","article-title":"Neonatal identification of pituitary aplasia: a life-saving diagnosis. 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