Endocrine Abstracts

Background

Posterior pituitary ectopia is a rare congenital condition that consists of the abnormal position of the distinctly hyperintense signal suggestive of the posterior pituitary gland on magnetic resonance imaging. The classical features include the ectopic location of the posterior pituitary gland, pituitary stalk abnormalities and associated clinical manifestations related to isolated growth hormone deficiency. In rare cases, some patients suffering from this condition may develop panhypopituitarism.

Case report

The present paper aimes to present a rare case of a late-diagnosed ectopic posterior pituitary with an absent pituitary stalk and panhypopituitarism, in a 16-year-old male patient with severe mental retardation, under the care of a non-compliant mother. The initial physical examination showed short stature, mild facial dysmorphism, absence of both expressive and receptive language, micropenis and cryptorchidism. Laboratory investigations showed multiple anterior pituitary deficiencies: growth hormone deficiency (GHD), with a corresponding low insulin-like growth factor-1 (IGF-1), low free-thyroxine-4 (FT4), low follicle-stimulating hormone (FSH), and luteinizing hormone levels (LH), low total testosterone level, low serum cortisol level, hyperprolactinemia and severe 25-hydroxivitamin D deficiency. The radiographic anatomy of the hand estimated a bone age between 6 and 7 years. A pituitary magnetic resonance imaging revealed the absence of the pituitary stalk, hypoplastic anterior pituitary and the ectopic location of the posterior pituitary near the mammillary bodies. Initially, the patient was treated with prednisolone 5 mg/day, levothyroxine 50 mg/day, and cholecalciferol 1000 IU/day. At the 3-month follow-up, no significant improvement could be observed, due to lack of compliance from the patient’s mother regarding treatment administration. The decision to add human growth hormone and later on human chorionic gonadotropin to the current treatment was taken. Parent counseling was provided. At the 6-month follow-up, a slight improvement in the patient’s height and general condition was observed.

Conclusion

Taken together, our findings support the theory that in rare cases, an absent infundibular stalk is associated with panhypopituitarism. Based on the clinical and hormonal findings, magnetic resonance imaging for hypothalamic-hypophyseal abnormalities was the key investigation to determine the underlying cause of these aspects. If diagnosed early and with adequate treatment adherence, the therapy can ensure normal psychiatric and somatic development in pediatric patients. Parent compliance is crucial for successful outcomes.