How to diagnose the cause of primary amenorrhoea??

Algorithm : Flow chart  of  Primary amenorrhea    

1)Normal secondary sex characteristics :- Pelvic ultrasonography :-A) uterus absent :- karyotype :-a) 46xx:- mullerian agenesis , b)46xy :- androgen insensitivity syndrome    

B) uterus present :-1) outflowtract obstruction    2) Normal anatomy :-FSH/LH/PRL estimation :-l)normal :- Hypothalamic ll) elevated LH/FSH :- pcos lll)FSH/LH :- resistant ovary lV) PRL :- Hyperprolactinemia

2)Poor or absent secondary sex characteristics :-Go for height :- A)Normal  Height :- FSH/LH :- a)Low :- Hypogonadotrophic , hypogonadism . b) High :- karyotype :-l) 46xx , primary ovarian failure , Resistant ovary , Gonadal agenesis ll) 46xy Androgen insensitivity testicular feminization syndrome.

B) short :- FSH/LH :- l) Low :-a) Hypothalamo- pituitary dysfunction intracranial lesion

ll) High :- karyotype :- 45 xo ,45x0/46 xx,45,xo/46 xy

Secondary  Sex Characters:  Normal

Pelvic eamination /USG

1)Absent uterus but presence of Gonads :According to gonadal position:-- l) Intrabdominal:-a) Mullerian agenesis

 ll) Inguinal /Labial :-b) Karyotype 46xyferminization syndrome

2) Normal uterus ans gonads :- l) estrogen+ progesterone challengetes with drawl bleeding:- a)Negative:- TB endometritis b)positive HPO axis  Crypto menorrhea with collection of blood in uterus and /or vagina will be seen on USG.

                             b) Poor absent :- Somatic abnormalities l) absent :- Gonadotropins FSH/LH :-Low :-Prolactin :-a)high :-S-TSH :-l)High :-hypothyroidism b) Normal :- A)MRI /CAT –scan :-1) abnormal :- Microadenoma/Microadenoma 2) idiopathic/Drug related

ll) Present :-karyotype :- 45Xo tumor .4Xo/46 XX , mosaic  etc.

                                                c) Hetrosexual :- karyotype :-a) 46xy incomplete testicular feminization syndrome b) 46xy46xy mixed gonadal dysgenesis (with streak gonads on USG )c) 46xy 17 .20 lyase deficiency (elevated progesterone levels )