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A 15 y/o female is brought to ur office by her parents complaining of absent secondary sexual characteristics and amenorrhea.Her medical hx is unremarkable and she denies taking any medications..Examination reveals absent breasts, pubic and axillary hairs.Vaginal examination could not be performed.Olfactory exam reveals an inability to identify different odors.Ultrasound shows a uterus and two ovaries.Serum FSH level is 2 U/L (normal = 4 - 30).Which of the following is the most likely karyotype to be found in this pt?

A-45 XO
B-45 YO
C-46 XX
D-46 XY
E-47 XXY

cc

thanks for Qs ,sarim

I'm lost on this one sarim. . I messed up some quest yst too .

kallmann syndrome ,no GNRH secreting cell migration .

Thanks. @khayat - do u mind sharing you schedule or plan for the last two months. Even I'm aiming for October end but now feel I'm not confident enuf. You can email at determined2015d only if u r willing
Thanks

ok,me too .not confident

right thanks

so kallmann syn, only problem with GnRH, so no chr abnormality....pt being female, its 46XX right?

Right, there is no chromosomal abnormality. They have NORMAL Karyotype

MALE --------46XY
FEMALE ----- 46XX

Pathophysiology ---- "Defective Migration of GnRH-secreting and Olfactory Neurons to their final adult position"

Along with the consequences of not having GnRH, "ANOSMIA"(lack of sense of smell) is also present in most of these pts.