Two Cases of Late Diagnosis Pituitary Stalk Interruption Syndrome and Literature Review

Pituitary stalk interruption syndrome (PSIS) is a rare congenital condition that includes the triad of a thin pituitary stalk, an ectopic posterior pituitary gland, and an absent or hypoplastic anterior pituitary gland and is usually diagnosed in infancy. This report presents two cases of late diagnosis of PSIS and a literature review of the relevant cases. The objective is to update data on such an uncommon syndrome to avoid the consequences of pituitary dysfunction including short stature, impaired cognitive function, negative impact on bone health, adrenal crises and delayed puberty.

In this paper, we report on two cases of late diagnosis of PSIS with a history of growth hormone deficiency. The first case is a 21-year-old female presenting with generalized fatigability, dizziness and delayed puberty, while the second case is a 19-year-old female presenting with secondary amenorrhea. The hormonal profile of the first patient revealed panhypopituitarism; the second case had growth hormone deficiency subsequently had secondary hypogonadism with intact thyroid and adrenal functions. The diagnosis of PSIS was confirmed by magnetic resonance imaging (MRI), and both cases were treated with hormone supplements. Progress was also tracked through planned follow-up sessions. To the best of our knowledge, this is the first case series of such late diagnosis PSIS from Saudi Arabia.

The key message of this paper is that rare etiologies such as PSIS should be kept in mind, especially for young patients presenting with clinical evidence of pituitary hormonal deficiencies, and MRI should be considered to confirm diagnosis. The early diagnosis, hormonal replacement, and long-term follow-up are crucial to reducing negative impacts of pituitary hormonal deficiencies.