DISORDERS OF SEX DEVELOPMENT ( DSD ) Sex determination occurs in embryo,with female phenotype being default setting . Male genitilia require testosterone to develop.sex determining gene ( SRY )on Y chromosome is responsible for development of testis., which in turn secretes AMH , causing regression of paramesonephric ducts.If any of this process fails,rrsulting offspring may be genetically male ,but phenotypically female. CAUSES OF DSD CLASSIFIED ACCORDING TO KARYOTYPE. 46XX KARYOTYPE. 1. Virilizing forms of CAH. 2. Ovo - testicular DSD. //True hermaphroditism. 3. Maternal virilizing conditions. 4. Placental aromatase deficiency. 46,XY,KARYOTYPE. 1. Androgen insensitivity syndrome.( AIS ). 2. Defects 8testosterone biosynthesis. 5 - alpha reductase deficiency. 17 B - hydroxy steroid deficiency. 3. Swyer syndrome 4. Partial gonadal dysgenesis secondary to single gene mutations. 5. Leading cell hypoplasia. ABNORMAL KARYOTYPE. 1. 45,XO Turner syndrome. 2. XO / XY mixed gonadal dysgenesis. DSD is not synonymous with ambiguous genitilia. AIS,swyer syndrome and Turner syndrome present with primary amenorrhea. INVESTIGATION. Full assessment of the infant to look for evidence of life threatening salt loosing crisis ( adrenal insufficiency ) includinghypovolemia,hypoglycaemia and hyperpigmentation. Look for features of Turner syndrome or other congenital anomalies. Inspect genitilia carefully looking for position of orifices. Urgent S -17 hydroxy progesterone ( raised in CAH ) 24 hour urine collection for steroid analysis. Karyotyping with urgent FISH for fragments of Y chromosome. Ultrasound to locate gonads and presence of uterus. CORRECTIVE SURGERY. Surgical correction of external genitilia. The need for gonadectomy due to risk of malignancy especially for patients with gonadal dysgenesis or the presence of Y fragment. In AIS,it is advised to delay gonadectomy till puberty as malignancy risk is much lower.

A 20 year young man suffering from penis size problem size only 2 inches please suggest ayurveda and Homeopathic treatments

A newborn baby come to my opd with complaint of as shown in picture. baby have scrotum but no penis present. a small opening is present at the site of penis. please tell me Rx n Dx n prognosis?

What is the most likely diagnosis in a full-term neonate with electrolyte abnormalities and this exam finding? A) Congenital adrenal hyperplasia B) Hypospadias with cryptorchidism C) Preterm ovarian hyperstimulation syndrome D) Turner syndrome E) Mixed gonadal dysgenesis

A 19 yr old male patient came in surgery opd... spot the diagnosis of following image ...and this present from birth.... patient has no complaints...