{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:11:35Z","timestamp":1791353495937,"version":"4.3.1"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,2,27]],"date-time":"2004-02-27T00:00:00Z","timestamp":1077840000000},"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":[[2004,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold><jats:sc>objective\u2002<\/jats:sc><\/jats:bold> Mutations in the GHRH receptor (GHRHR) gene (<jats:italic>GHRHR<\/jats:italic>) cause autosomal recessive isolated GH deficiency (IGHD), and are usually associated with anterior pituitary hypoplasia (APH) (defined as pituitary height more than 2\u00a0SDS below normal). We searched for <jats:italic>GHRHR<\/jats:italic> mutations and studied pituitary morphology in three prepubertal sibs with severe IGHD, who were born from consanguineous parents.<\/jats:p><jats:p><jats:bold><jats:sc>design\u2002<\/jats:sc><\/jats:bold> We sequenced the 13 exons and the intron\u2013exon boundaries of the <jats:italic>GHRHR<\/jats:italic> of the index patient. After identifying a novel mutation, we sequenced the same area in the other family members. In addition, we performed magnetic resonance imaging (MRI) study of the pituitary (at age 8, 4 and 3\u00a0years) in the three affected subjects.<\/jats:p><jats:p><jats:bold><jats:sc>results\u2002<\/jats:sc><\/jats:bold> The three children were homozygous for a new <jats:italic>GHRHR<\/jats:italic> mutation that alters the second base of the invariant 5\u2032 splice site (GT) of intron 12 [IVS12\u00a0+\u00a02T\u2192A]. The parents and an unaffected sibling were heterozygous for the same change. MRI did not show frank APH (by height criteria) in any of the subjects: pituitary height was normal (5\u00b76\u00a0mm,\u00a0+1\u00b78 SDS) in the oldest sibling, and it was low but not below 2\u00a0SDS by age\u2010adjusted criteria in the second (3\u00a0mm, \u22121\u00b74 SDS), and third sibling (2\u00b78\u00a0mm, \u22121\u00b77 SDS). Calculated pituitary volume was below \u22122 SDS in the youngest patient.<\/jats:p><jats:p><jats:bold><jats:sc>conclusions\u2002<\/jats:sc><\/jats:bold> These data demonstrate that pituitary height may fall within 2 SDS from the norm in patients with severe IGHD due to a homozygous <jats:italic>GHRHR<\/jats:italic> mutation, and that pituitary size may vary within patients with identical mutations who belong to the same family.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2004.02003.x","type":"journal-article","created":{"date-parts":[[2004,12,21]],"date-time":"2004-12-21T20:29:39Z","timestamp":1103660979000},"page":"470-475","source":"Crossref","is-referenced-by-count":32,"title":["Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor 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