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A Case of Congenital Hypopituitarism

Catherina Shirokova, Savi Shishkov, Velina Kerekovska, Mila Boyadzhieva, Kiril Hristozov


Introduction: Congenital hypopituitarism is a condition, presenting with partial or total loss of a single or multiple hormones, secreted by the anterior and/or posterior part of the pituitary gland. Patients have damaged hormone sequences and certain deficits depending on the hormone/s that is absent. Studies point the etiology of the condition as multi-sided - abnormal development, molecular and recently found genetic patterns.  

Materials and Methods: We present a case of a 21-year-old male patient, first diagnosed with bilateral cryptorchidism 10 years ago. Later on, he developed fatigue, nausea, vertigo and dry scaly skin. The further endocrinology tests showed low levels of adrenocorticotrophic hormones, glucocorticoids, thyrotrophic hormone and gonadotrophins, including low testosterone levels. Physical examination revealed metatarsal bone abnormalities and no signs of puberty development. The family history of the patient also shows a relation between his parents (distant cousins) and another present relative - an older brother with normal development.

Results: In this case these four pituitary hormones are absent: corticotrophic, thyrothophic, somatotrophic and gonadotrophic hormone and the results from the MRI study point out hypoplasia of the anterior pituitary gland, enlargement of the posterior part and an absent infundibulum. X-ray results of the hand show retardation of the bone age (consistent with the one of a 12- or 13-year-old boy).

Conclusion: Results of the diagnostic tests and procedures lead to the suspicion that in the present case there is a genetic abnormality in the SOX3 gene consistent with the anterior pituitary hypoplasia and an ectopic posterior part.


hypopituitarism, genetics, pituitary gland



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