If physical appearance; normal breast development without areolar pigmentation; scanty pubic & maxillary hair; average stature, external genitalia-Labial or inguinal gonads; internal genitalia- short blind vagina,absence of uterus then the case is Androgen insensitivity syndrome.
(7) If physical appearance – Features of(Hypogonadotrophic hypogonadism; short stature; mental retardation;obesity;retinitis pigments; external genitalia, internal genitalia- underdeveloped; then the case is :-(1)Cretinism due to hypothyroidism (2) Hypothalamus -pituitary dysfunction (rare):-(a) Kallmann syndrome(b ) Prader-Labhardt-Willi syndrome. (c) Laurence -Moon-Bardot -Biedl syndrome (rare).
Now we are going for special investigations part:- Special investigations in a case of Primary Amenorrhoea to corroborate clinical diagnosis:- (A)If probable diagnosis; Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome); Investigations :-(1) Ultrasonography:- uterus absent(2) Laparoscopy:-tubes present,ovaries normal (3) Karyotype:- 46XX; (4) IVP (Intravenous pyelogram) shows :-urinary tract abnormalities (30%)
(B) If probable diagnosis is unresponsive endometrium then; investigations of (1) Progesterone challenge test:- negative (2) HSG/Hysteroscopy:- Normal uterine cavity; (3) Hormonal studies :-Normal (C)
Uterine synechiae:- (1) Progesterone challenge test:-negative; (2)HSG:-Honeycomb appearance, (3)Hysteroscopy:-Direct visualisation, (D) Tubercular:- (1) Blood-ESR:- Raised. (2) X-ray -chest:-May have positive findings; (3) Mantoux test:- positive(usually), (4) Endometrial biopsy :-positive lesion may be detected.
(E) Hypogonadotrophic-hypogonadism:-(1) Progesterone challenge test:-negative (2)Serum gonadotrophins :- low, (3) Serum oestradiol :-low (F) Primary ovarian failure :- (1) Karyotype :-46XX, (2)Serum oestradiol :Low; (3)Serum gonadotrophins:- elevated. (4)Ovarian biopsy (ovaries -small /streak) ovarian biopsy is not essential for diagnosis:- (1) afollicular (common); (2) follicular or (3) autoimmune(lymphocytic infiltration) type.
Follicles are present in resistant ovarian syndrome.
(G) Turner syndrome:-investigations:- (1) Laparoscopy :-‘streak’ gonads. (2) Serum gonadotrophins :-high. (3) Karyotype: 45, X O or 45, XO/46, XX.
(H) Androgen insensitivity syndrome:-(1) Laparoscopy :-uterus:-absent, Tubes :-absent, (2) Serum testosterone :- Equal to normal males (3) Karyotype :- 46,XY (4) Gonadal biopsy :-Testicular structure (I) Adrenogenital syndrome :-(1) Karyotype :-46, XX (2) Serum 17 hydroxy-progesteron :- elevated (3) Urinary pregnanetriol :- elevated
(J) Thyroid dysfunction (hypo):-Serum TSH:- elevated, T3 T4 :- Lowered
(K) Diabetes:- Blood sugar :-elevated
As per management purpose the scope of therapeutic or medicinal success in the management of primary amenorrhoea is very limited.Dr Priyanka Baisya
