Hypothalamic defects seen in overweight kids with PSIS

Notable phenotypic differences are present in patients with pituitary stalk interruption syndrome (PSIS) who are overweight or obese, which indicate hypothalamic defects, reports a study.

The authors identified patients with PSIS and obesity or overweight, characterized their phenotype, and compared them with PSIS patients with normal weight. They included 69 children and young adults with PSIS (sex ratio, 1.6) in a Toulouse cohort from 1984 to 2019. Of these, 25 were obese or overweight (OB-OW group) and 44 were nonobese/overweight (NO group).

Cases of PSIS were all sporadic. In both groups, consultations were done primarily for growth retardation (61 percent in the OB-OW group and 77 percent in the NO group).

Patients in the OB-OW cohort were more likely to have a history of neonatal hypoglycaemia (57 percent vs 14 percent; p=0.0008) as well as extrapituitary malformations (64 percent vs 20 percent; p<0.0001) than those in the NO group.

In addition, a higher incidence of caesarean section was observed in the OB-OW group than in the NO group (52 percent vs 23 percent), but it did not reach statistical significance (p=0.07).

“Studies are needed that include additional information on hormonal levels, particularly regarding oxytocin and ghrelin,” according to the authors.

“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,” they said.