DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations. Eur J Endocrinol. 2019 Sep 01;: Authors: Vergier J, Castinetti F, Saveanu A, Girard N, Brue T, Reynaud R Abstract Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It is heterogeneous regarding clinical, biological and radiological presentation and is characterized by the following triad: thin or interrupted pituitary stalk connecting the hypothalamus to the pituitary gland, missing or ectopic posterior lobe, and hypoplasia or aplasia of the anterior lobe. This review reports current knowledge about the composite pathogenesis, for which underlying mechanisms remain unclear. Current data suggest genetic origins involving early developmental gene mutations with complex inheritance patterns and environmental influence, placing PSIS at the crossroads between Mendelian and multifactorial diseases. The phenotype associated with PSIS is highly heterogeneous with a high incidence of various combinations of hormonal deficiencies, sometimes associated with extra-pituitary birth defects. The age at onset is variable, but typical presentation is permanent anterior pituitary hormone deficiencies at pediatric age, which appear gradually and progress in adulthood to panhypopituitarism. Therefore, p...
Source: European Journal of Endocrinology - Category: Endocrinology Authors: Tags: Eur J Endocrinol Source Type: research