January - March 2025, Volume 21, Issue 1

Bahar Akin S, Tolga Ozgen I, Uyanik B

Pituitary Stalk Interruption Syndrome Caused by Novel Compound Heterozygous Mutations in the KATNIP Gene

Acta Endo (Buc) 2025, 21 (1): 116-121
doi: 10.4183/aeb.2025.116

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.

Keywords: Combined pituitary hormone deficiency, pituitary stalk interruption syndrome, compound heterozygote novel mutation, KATNIP gene.

Correspondence: Semra Bahar Akin MD, Bezmialem Foundation University, Medical Faculty Hospital, Istanbul, Fatih, Istanbul, 34093, Turkey, E-mail: semraabahar@gmail.com