Clinico-radiological correlation of pituitary stalk interruption syndrome in children with growth hormone deficiency

PurposeTo analyze the clinical, hormonal, and radiological characteristics of Pituitary stalk interruption syndrome (PSIS) in children with growth hormone deficiency (GHD).MethodsThis is a prospective cross-sectional study, conducted over a period of three years in a short stature clinic of tertiary care referral hospital. 57 severe short stature children with proven GHD were included in the study.ResultsAmong 57 children with GHD, 14 (24%) were diagnosed as PSIS. The mean age at diagnosis was 11.8 & PLUSMN; 2.6years. The male to female ratio was 2.5:1. Nine (64%) children had multiple pituitary hormone deficiency (MPHD) and 5 (36%) had isolated growth hormone deficiency (IGHD). In spite of absent or ectopic posterior pituitary (EPP)in Magnetic Resonance Imaging (MRI) of PSIS cohorts, only one had Arginine vasopressin (AVP) deficiency. EPP was seen near median eminence in 6 (44%), elsewhere in 4 (28%), and absent in 4 (28%)children. The height gain following growth hormone therapy was better in PSIS cohorts as compared to non-PSIS.ConclusionMale gender, breech presentation, external congenital anomalies like cryptorchidism, midline defects and nystagmus were more common in children with PSIS. MPHD were more frequently seen in PSIS whereas IGHD in non-PSIS cohort. AVP deficiency is very rare in PSIS despite of absent or ectopic posterior pituitary in MRI. High index of clinical suspicion in all severe short stature may lead to early diagnosis and prompt initiation of growth hormone treatment for better outcome.

Automated summary

The purpose of this study was to analyze the clinical, hormonal, and radiological characteristics of Pituitary stalk interruption syndrome (PSIS) in children with growth hormone deficiency (GHD). The results showed that male gender, breech presentation, external congenital anomalies like cryptorchidism, midline defects, and nystagmus were more common in children with PSIS. Multiple pituitary hormone deficiency (MPHD) was more frequently seen in PSIS, whereas isolated growth hormone deficiency (IGHD) was more common in non-PSIS children. Despite absent or ectopic posterior pituitary in MRI, AVP deficiency was very rare in PSIS. A high index of clinical suspicion in severe short stature children may lead to early diagnosis and prompt initiation of growth hormone treatment for better outcomes.