ESPE Abstracts

Introduction: Pituitary stalk interruption syndrome (PSIS) is a relatively common cause of growth hormone deficiency and hypopituitarism, often diagnosed during the neonatal period or early childhood. Is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location. The aimof this study is to describe the clinical and paraclinical aspects of PSIS.

Materials and Methods: This is a descriptive observational study conducted over a period of 6 months, from January 2024 to June 2024, involving a series of 20 patients followed in the endocrinopediatrics department at the Rabat Children's Hospital for PSIS.

Results:

• In our study, the mean age at diagnosis was 9 years, with a range from 2 years and 1 month to 15 years.

• 14 cases (70%) were male.

• The patient history revealed no instances of fetal distress or neonatal incidents, nor any cranial trauma or pituitary surgery. However, two similar cases were noted in the family.

• The main reason for consultation was delayed growth in height and weight in all patients, associated with micropenis in 4 cases.

• Hormonal evaluation revealed a somatotropic deficit in all cases. This deficit was isolated in 8 cases (40%) and associated with other pituitary hormone deficits in 12 cases (60%). Functional impairment of the pituitary gland was found in only 2 cases.

• Pituitary MRI showed no visualization of the pituitary stalk in 2 cases, an interrupted pituitary stalk in 15 cases, and a thin stalk in the remaining cases.

• The pituitary gland was ectopic in all cases.

• The anterior pituitary was hypoplastic in 17 cases and normal in 3 cases.

Discussion: Pituitary stalk interruption syndrome (PSIS) presents a wide clinical diversity. A congenital origin remains the most likely. Pituitary MRI is crucial for diagnosis. Somatotropic insufficiency may be isolated or immediately combined with other deficiencies. The pituitary deficit may progress over time, necessitating long-term follow-up.