P-53 PITUITARY STALK INTERRUPTION SYNDROME: A CASE REPORT

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Abstract Introduction Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland responsible for GH deficiency or global pituitary insufficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP), and hypoplasia or aplasia of the anterior pituitary visible on magnetic resonance imaging (MRI). The etiology of this syndrome is not fully understood, and many theories, like perinatal injuries or defective organogenesis due to genetic or environmental factors during pregnancy, are proposed. In family cases of PSIS, rare mutations of HESX1, LH4, OTX3, SOX3 and PROKR2 may be the cause. In the majority of cases, no genetic cause is found. The symptoms and signs of this syndrome typically become apparent in the neonatal period and childhood. Sometimes symptoms can be overlooked, and diagnosis can be delayed. Clinical Case A 22-year-old male presented in our clinic with hypothyroidism and growth hormone deficiency. He had previously received growth hormone (GH) treatment for 6 years until he was 15 years old. He was receiving levothyroxine therapy for hypothyroidism. Complete blood count, serum electrolytes, erythrocyte sedimentation rate, urinalysis, and thyroid function tests were normal. Hormonal analysis showed FSH: 11.9 U/L (N = 1.4-18.1 U/L), LH: 4.1 U/L (N = 1.5-9.3 U/L), prolactin: 9.1 μg/L (N = 5.4-15.4 μg/L), ACTH: 24.5 pg/mL (N = <46), fasting morning cortisol: 17.2 μg/dL (N = 5.2-22.4 μg/dL), total testosterone: 4.03 μg/L (N = 1.64-7.53 μg/L), free testosterone: 6.39 pg/mL (N = 5.4-40 pg/mL), IGF-1: 114 μg/dL (N = 161-384 μg/dL). Brain MRI revealed slightly hypoplastic sella turcica and adenohypophysis measuring 4.2 mm in height, thin infundibulum, and ectopic posterior pituitary located posterior to the infundibulum in the suprasellar cistern. The diagnosis of pituitary stalk interruption syndrome is mainly based on its clinical manifestations, laboratory tests, and imaging examinations. Conclusion PSIS is a rare congenital malformation that presents with significant growth and developmental challenges in children. The symptoms can be disregarded, and the diagnosis will therefore be delayed. Early diagnosis and treatment are crucial for improving growth outcomes and overall quality of life. It must be considered in the presence of combined or isolated hypopituitarism. MRI is the imaging modality of choice for the diagnosis of this condition. Regular monitoring and supportive care are essential components of effective management for these patients.