ECE2020 Audio ePoster Presentations Pituitary and Neuroendocrinology (217 abstracts)
La Rabta Hospital, Department of endocrinology, Tunis, Tunisia
Introduction: Congenital hypopituitarism is a rare disease induced by mutations in transcription factors involved in the pituitary development or ubiquitous transcription factors. It can be associated with a malformative syndrome. We herein describe clinical and hormonal features of congenital hypopituitarism in two Tunisian families.
Observation 1: We report the case of three sisters, born at term to healthy consanguineous parents. The index case was referred at the age of 20 years for delayed growth. Physical examination showed a short stature with a height of 125 cm (< – 4
Observation 2: We report the case of two sisters, born at term to healthy consanguineous parents. The index case was referred at the age of 14 years for delayed growth. Physical examination showed a short stature with a height of 131 cm (between –3 and – 4
Conclusion: These two cases highlight the disparities of the phenotype presentation, sharing only the consanguinity and short stature in the siblings, motivating the investigations and leading to the diagnosis of congenital hypopituitarism. Molecular analysis is recommended for the genotypic diagnosis and guides the familial investigations and genetic counseling.