{"title":"PITUITARY STALK INTERRUPTION SYNDROME CAUSED BY NOVEL COMPOUND HETEROZYGOUS MUTATIONS IN THE <i>KATNIP</i> GENE.","authors":"S Bahar Akin, I Tolga Ozgen, B Uyanik","doi":"10.4183/aeb.2025.116","DOIUrl":null,"url":null,"abstract":"<p><p>Pituitary stalk interruption syndrome (PSIS) is characterized by the coexistence of an absent or thin pituitary stalk, an ectopic posterior pituitary (EPP) lobe, and an absent or hypoplastic anterior pituitary lobe. A 1-year-old boy presented with micropenis, and undescended testis associated with growth hormone, thyroid stimulating hormone, and gonadotropin deficiencies. Pituitary hypoplasia, EPP, and a missing pituitary stalk were seen on magnetic resonance imaging (MRI). Whole-exome sequencing (WES) revealed compound heterozygous variants in the <i>KATNIP</i> gene (NM_0.15202.5: c1461G>A / c.4035delC) in the recruited individual, and subsequent familial segregation showed that family established the trans position for c.1461G>A and c.4035delC variants.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 1","pages":"116-121"},"PeriodicalIF":0.8000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12966834/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Endocrinologica-Bucharest","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4183/aeb.2025.116","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
Pituitary stalk interruption syndrome (PSIS) is characterized by the coexistence of an absent or thin pituitary stalk, an ectopic posterior pituitary (EPP) lobe, and an absent or hypoplastic anterior pituitary lobe. A 1-year-old boy presented with micropenis, and undescended testis associated with growth hormone, thyroid stimulating hormone, and gonadotropin deficiencies. Pituitary hypoplasia, EPP, and a missing pituitary stalk were seen on magnetic resonance imaging (MRI). Whole-exome sequencing (WES) revealed compound heterozygous variants in the KATNIP gene (NM_0.15202.5: c1461G>A / c.4035delC) in the recruited individual, and subsequent familial segregation showed that family established the trans position for c.1461G>A and c.4035delC variants.
期刊介绍：
Acta Endocrinologica (Buc) is an international journal covering the fields of basic and clinical Endocrinology, Neuroendocrinology, Reproductive Medicine, Chronobiology, Human Ethology published quarterly
Acta Endocrinologica (Buc) is the official international journal of the Romanian Society for Endocrinology. It continues the former Romanian Journal of Endocrinology
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