Searchable abstracts of presentations at key conferences in endocrinology

ea0029p415 | Clinical case reports - Thyroid/Others | ICEECE2012

New insulin receptor mutation in a patient with primary amenorrhea

Proietti Pannunzi L. , Morgante S. , Deiana M. , Chiefari A. , Caprioli S. , Vottari S. , Monti S. , Barbetti F. , Toscano V.

Primary amenorrhea is a rare disease that affects <1% of adolescent girls. The most common causes of primary amenorrhea include chromosomal abnormalities, hypothalamic and pituitary disorders, lack or structural abnormality of reproductive organs.18 years old woman was referred to us by her pediatric physician for evaluation of primary amenorrhea and hirsutism. She had low birth weight, 1.9 kg, and hypostaturism. At the age of 6 years underwent to cl...