DSD

Denys Drash
Phenotypic female or male
46xy
Female internal organs with streak ovaries(as MIF is missing)(WT1 suppressor defect)
Plus syndrome findings wilms,renal failure,ambiguous genitals.
Abdominal mass is a rare presenting symptom, they re actually treated as atypical nephrotics ;)
Because genitalia may be virilized to be male looking with labial fusions. If male type true genitals,then cryptorchidism.,but still female internal organs present(obviously has MIF was not there so internal organs will form).

WAGR
phenotypic male but with cryptorchdism and hypospadias.
46 XY
Wilms,aniridia,GU abnor,retard mental
Defect in chromosome 11.

If the patient has all features of..... DenysDrash,but wilms tunor is not there(oops), then look for developing Gonadoblastoma in streak gonads,its Frasier syndrome.

Now theres a female,
Who has failed to achieve menarche,
But there is thelarche,
Genitals female type,
Ultrasound reveals that there are no internal female organs, and along tract,instead, testes are seen.
Means MIF worked, so no internal organs, testosterons didnot work thats why female external organs. Thats androgen insensitivity syndrome.
Her karyoype will be 46xy.,and normal testosterone...that converts to estradiol,and so thelarche is there.

Now, after this patient,
Another female comes :)
She has failed to achieve menarche, but his patient, also doesnt have thelarche,
The genitals are true female type,
And ultrasound reveals, internal female organs n gonads....oppps!  Wait n see???
No.
Get Karyotype.
.
46xy
.
Get testosterone.
.
Low.
.
.thats defective SRY gene,
46,xy but no SRY, means No MIF, means female genitals will form,
No SRY means no testosterone,
Which means no male ductal system or testes and so female genitals.
Its Swyer syndrome.