ECE2018 ePoster Presentations Pituitary and Neuroendocrinology (36 abstracts)
Unusual association: turner syndrome and anterior pituitary insufficiency in 6 cases
Wajdi Safi 1 , Faten Hadj Kacem 1 , Mariem Moalla 2 , Dorra Ghorbel 1 , Fatma Mnif 1 , Mouna Mnif Feki 1 , Nabila Rekik 1 , Neila Belghith 3 , Fatma Abdelhedi 3 , Hassen Hadj Kacem 2 & Mohamed Abid 1
1Department of Endocrinology, Sfax, Tunisia; 2Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia; 3Human genetic laboratory, Hedi Chaker Hospital, Sfax, Tunisia.
Introduction: Turner syndrome (ST) affects 1/2500–1/4000 of female births, its association with congenital malformations is traditional, however the coexistence of hypopituitarism is exceptional. In this context, we report 6 patients; including 3 belonging to the same family and in whom the association of anterior pituitary insufficiency (IAH) to a ST was confirmed.
Results: The average age of our patients was 17.2 years (11–31). The ST was selected for dysmorphic syndrome with impuberism in sporadic cases (n=3) and familial cases (n=3), except for the fourth sister who presented spontaneous puberty with integrity of the pituitary axes with the presence of an X ring chromosome. Somatotropic deficiency (peak GH <10 ug/l) and corticotropic deficiency (cortisol: average 65 ng/ml and ACTH: average 4 pg/ml) were confirmed in all sporadic cases while the gonadotropic and thyrotropic axes were spared. On the contrary; in familial cases they were consistently affected (FSH: mean 1.1 mU/ml, LH: mean 2 mU/ml, E2 <9 pg/ml, FT4: average 4.2 pmol/l, TSH: average 1.3 mU/l) with integrity of the corticotropic axis. MRI showed pituitary hypoplasia in all familial cases and pituitary stalk interruption syndrome in only one sporadic case. The karyotype showed a monosomy in 3 cases and a mosaic ST in the 3 remaining cases, including one case with abnormal X chromosome structure. No correlation was found between the chromosome formula and the anterior pituitary involvement.
Discussion: We report the largest serie concerning the association between IAH and ST: 6 cases out of 11 in the literature. Co-segregation of congenital IAH with pituitary hypoplasia and X chromosome aberrations could imply a biomolecular anomaly of transcription factors responsible for the differentiation and development of pituitary cells such as: PROP1, POUF1, Hesx1, Lhx3, Lhx4, and Ptx2.
Conclusion: The aetiopathogenic link between X chromosome abnormalities and the occurrence of AHI remains unclear; the progress of molecular biology may clarify the interrelation between transcription factors and sex chromosome segregation abnormalities.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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