ACTA ENDOCRINOLOGICA (BUC)

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.