{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:15:26Z","timestamp":1762431326492,"version":"3.37.3"},"reference-count":38,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,6,6]],"date-time":"2017-06-06T00:00:00Z","timestamp":1496707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006662","name":"National Institute on Handicapped Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006662","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Congenital growth hormone deficiency is a rare disorder with an incidence of approximately 1 in 4,000 live births. Pituitary development is under the control of a multitude of spatiotemporally regulated signaling molecules and transcription factors. Mutations in the genes encoding these molecules can result in hypopituitarism but for the majority of children with congenital hypopituitarism, the aetiology of their disease remains unknown. The proband is a 5\u2010year\u2010old girl who presented with neonatal hypoglycaemia and prolonged jaundice. No definitive endocrine cause of hypoglycaemia was identified in the neonatal period. She was born of normal size at 42 weeks but demonstrated growth failure with a progressive reduction in height to \u22123.2\u2009SD by age 4.5 years and failed a growth hormone stimulation test with a peak growth hormone of 4.2\u2009mcg\/L. MRI of the pituitary gland demonstrated a hypoplastic anterior lobe and ectopic posterior lobe. Array CGH demonstrated an inherited 0.2\u2009Mb gain at 1q21.1 and a de novo 4.8\u2009Mb heterozygous deletion at 20p12.2\u20133. The deletion contained 17 protein coding genes including <jats:italic>PROKR2<\/jats:italic> and <jats:italic>BMP2<\/jats:italic>, both of which are expressed during embryological development of the pituitary gland. <jats:italic>PROKR2<\/jats:italic> mutations have been associated with hypopituitarism but a heterozygous deletion of this gene with hypopituitarism is a novel observation. In conclusion, congenital hypopituitarism can be present in individuals with a 20p12.3 deletion, observed with incomplete penetrance. Array CGH may be a useful investigation in select cases of early onset growth hormone deficiency, and patients with deletions within this region should be evaluated for pituitary hormone deficiencies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38306","type":"journal-article","created":{"date-parts":[[2017,6,6]],"date-time":"2017-06-06T15:44:10Z","timestamp":1496763850000},"page":"2261-2267","source":"Crossref","is-referenced-by-count":8,"title":["A heterozygous microdeletion of 20p12.2\u20133 encompassing <i>PROKR2<\/i> and <i>BMP2<\/i> in a patient with congenital hypopituitarism and growth hormone deficiency"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3008-8966","authenticated-orcid":false,"given":"Samuel J. 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