Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults

Abstract

Background Pituitary stalk interruption syndrome (PSIS) is rare in the paediatric population. It combines ectopic posterior pituitary stalk interruption and anterior pituitary hypoplasia with hormonal deficiencies. The phenotype is highly heterogeneous and obesity/overweight seems to be underreported in the literature. Objective To identify patients with PSIS and obesity or overweight, describe their phenotype, and compare them with patients with PSIS without overweight/obesity. Methods Sixty-nine children and young adults with PSIS in a Toulouse cohort from 1984 to 2019 were studied. We identified 25 obese or overweight patients (OB-OW group), and 44 were non-obese/overweight (NO group). Then, the groups were compared. Results All cases were sporadic. The sex ratio was 1.6. The main reason for consultation in both groups was growth retardation (61% in OB-OW group, 77% in NO group). History of neonatal hypoglycaemia was more common in OB-OW than in NO group (57% vs. 14%, p = 0.0008), along with extra-pituitary malformations (64% vs. 20%, p < 0001). The incidence of caesarean section was higher in OB-OW group (52%) than in NO group (23%), although not significant (p = 0.07). Conclusion Patients with obesity/overweight and PSIS display interesting phenotypic differences that suggest hypothalamic defects. Studies are needed that include additional information on hormonal levels, particularly regarding oxytocin and ghrelin.

Clinical Features and Analysis in Pituitary Stalk Interruption Syndrome

“…Some scholars suggest that perinatal injuries such as dystocia, breech delivery, and neonatal hypoxemia may contribute to the development of PSIS [2,37], while others suggest an association between PSIS and genetic factors. Tese genetic factors include mutations in PROP1, HESX1, LHX3/LHX4, and OTX2 genes, as well as mutations in Wnt, Notch, and Shh signaling pathways [3,4,38]. After the diagnosis of PSIS, timely hormone replacement therapy should be initiated, following the principle of replenishing what is defcient.…”

Pulsatile gonadotropin-releasing hormone therapy induces spermatogenesis in pituitary stalk interruption syndrome: A case report and review of the literature

“…Specific research on Chinese PSIS patients highlighted a high male proportion, a history of breech delivery, and multiple pituitary hormone deficiencies in the majority of cases[ 27 ]. Additional clinical features may include overweight and obesity[ 28 ]. Variations in clinical presentation, including differences in sex distribution and age at diagnosis, have been noted among various ethnic groups.…”