Endocrine Abstracts

Congenital morphological alteration of pituitary gland is a rare disease often associated with isolated or multiple hormonal deficiency. So far only few genes have been shown to be implicated in a small number of these cases.

Aim of this study was to evaluate putative genetic alteration by an array-based comparative genomic hybridization (array-CGH) in 19 adulthood patients, 16 males and 3 females, affected by congenital morphological alteration of the pituitary.

Eleven patients were panhypopituitaric, two were affected by GH, LH–FSH and TSH deficits; two by GH and LH–FSH; one by isolated GH; one by GH, ACTH and TSH; one by GH, LH–FSH and AVP and one patient by GH and AVP. Nuclear magnetic resonance study showed an hypoplasic adenohypophysis and ectopic neurohypophysis in 16 subjects and an hypoplasic adenohypophysis associated to an undetectable neurohypophysis in three.

The array-CGH showed unbalanced chromosomal rearrangements in 6 out of 19 patients; in 4 of these 6 patients, the rearrangements were already described as normal genomic variants. In a patient we found a microdelection of chromosome 2 (del2q37.2) not yet described, but present in his healthy father. In another patient was detected an undescribed 359Kb duplication on chromosome 11 (dup11q21), containing six genes including GPR83, ANKRD49, MRE11A, expressed in central nervous system. Unfortunately we could not confirm the origin of the duplication since the parents are still not available for the analysis.

In conclusion, we confirm that hypoplasic adenohypophysis and ectopic or undetectable neurohypophysis are associated with single or multiple hormonal deficits. The CGH-array experiments were not able to detect any significant genetic alteration in our cohort, although further studies are needed to evaluate the role of dup11q21 in pituitary malformation. Our plan is to follow up this search by including new patients and by implementing the study with the exome sequencing technique.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.