Objective: Pituitary stalk abnormalities are one of the causes of hypopituitarism. Isolated pituitary stalk duplication with a single pituitary gland is extremely rare with only a few cases reported to date. The present case has a different clinical picture as compared to the cases that were previously reported in the literature.
Case report: A 2 years 6-month-old male child, a product of nonconsanguineous marriage, presented with short stature, micropenis with unilateral undescended testis, and delayed motor milestones. His bone age was delayed by 6 months. On further evaluation, he was found to be euthyroid, with stimulated growth hormone (GH) and stimulated gonadotropin levels were suboptimal, whereas the cortisol and the prolactin were normal. Magnetic resonance imaging of the pituitary revealed pituitary stalk duplication with a single pituitary gland of normal dimensions and fused tuber cinereum and mammillary body.
Discussion: To our knowledge, only 7 cases with isolated pituitary stalk duplication were reported. The presenting complaint could be primarily of hypopituitarism like short stature or a neurologic complaint or ocular abnormality. The pituitary hormone deficiencies are variable with GH deficiency being the most common as seen in our case. Other associated features could be the morning glory disc anomaly, moyamoya disease, pituitary adenoma or hypoplasia, split hypothalamus, and sellar dermoid.
Conclusion: Pituitary stalk duplication is a developmental disorder that is diagnosed only by imaging. Patients should be evaluated for hypopituitarism, particularly the GH and gonadotrophins deficiency, and also screened for associated neurologic and ocular abnormalities.
Keywords: growth hormone deficiency; pituitary stalk duplication.
© 2023 Published by Elsevier Inc. on behalf of the AACE.