Summary

https://doi.org/10.1093/clinchem/hvaa083

A 16-year-old phenotypic female presented with primary amenorrhea and lack of breast development, with no axillary or pubic hair. She had no previous medical history, aside from vitamin D deficiency and mild iron deficiency anemia as a child. There was no family history of endocrinopathy. On examination, she was normotensive, overweight, and noted to be tall in comparison to her nonconsanguineous parents.