Pituitary Stalk Interruption Syndrome: Report of Two Cases and Literature Review

Abstract

Pituitary stalk interruption syndrome (PSIS) consisting of the triad: ectopic posterior pituitary (EPP), thin or absent pituitary stalk and anterior pituitary hypoplasia is a rare pituitary malformation with variable degrees of pituitary insufficiency, from isolated growth hormone deficiency to TSH, gonadotropin and ACTH deficiency which may occur in time, with normo, hyper or hypoprolactinemia and central diabetes insipidus in up to 10% of cases. Also, extrapituitary malformations have been described in some cases. Genetic defects were identified only in 5% of cases. MRI findings are considered predictive for the endocrine phenotype. We aim to describe two cases with PSIS without central diabetes insipidus, anosmia and extrapituitary malformations, except for minor head dysmorphic features. The first case was referred at the age of 4 years for short stature (-4SDS for height, bone age 2 years), diagnosed with severe GH deficiency and developed central hypothyroidism and hypoprolactinemia during five-years follow-up. The second case, a 26 year old male with birth asphyxia, cryptorchidism, poor growth in childhood and adolescence (-3 to-4 height SDS), absent puberty and normal adult height (-1.18 SDS; bone age 15.5 years and active growth plates) had GH, TSH, ACTH deficiency and low normal PRL levels. Increasing medical awareness on PSIS clinical and endocrine heterogeneity may help a more early and accurate diagnosis. Corroboration of neuroimaging and endocrine data will improve our knowledge and understanding and will create premises for molecular diagnosis, genetic counseling and a better patients' management.

Two cases of pituitary stalk interruption syndrome: importance of early detection and management

“…Additionally, extracerebral malformations, such as those affecting the heart, skin, and extremities, are also observed. Therefore, it is crucial to conduct regular screenings of the cardiac, ophthalmologic, and cerebral systems 15 . The first reported case had porcelain gallbladder in young age.…”

Lost Connection: A Case Report of Interrupted Pituitary Stalk Syndrome

“…In patients with pituitary stalk interruption syndrome, 100% suffer from short stature due to deficient growth hormone, 97.2% exhibit gonadotropin deficiency, 88.2% have reduced corticotropin levels, 70.3% show a reduction in thyrotropin, and 36.4% experience hyperprolactinemia [ 8 , 9 ]. A combination of three or more hormone deficiencies of the anterior pituitary was observed in 92.7% of patients [ 10 ].…”

Pituitary Stalk Interruption Syndrome in a Child: A Rare Case Report with Literature Review

“…Hypothyroidism may present with fatigue, cold intolerance, and other signs of thyroid hormone deficiency. In addition, patients may show signs of other hormonal deficiencies such as adrenal insufficiency, growth hormone deficiency, and diabetes insipidus, depending on the involvement of other pituitary hormones [4].…”

“…The estimated incidence of PSIS is approximately 0.5 per 1,000,000 births, with males being more frequently affected than females at a ratio of 1.7-2.3:1 [1,3,4]. PSIS has a significant impact on patient health and quality of life.…”