Table 1. Laboratory, Imaging, and Genetic Investigations
10 May Semen analysis 1 Azoospermia (no spermatozoa seen even after centrifugation 3000 x g for 15 min) WHO 6th edition (2021)
05 July Semen analysis 2 (repeat) Azoospermia - confirmed WHO 6th edition (2021)
08 June Endocrine profile
- FSH
- LH
- Testosterone
- Prolactin
- TSH
74.3 mIU/mL
38.4 mIU/mL
344.8 ng/dL (11.9 nmol/L)
7.6 ng/mL
2.14 mIU/L
1.5-12 mIU/mL
1.7-8.6 mIU/mL
300-1000 ng/dL (10.4-34.7 nmol/L)
4-15 ng/mL
0.4-4.0 mIU/mL
02 June Scrotal ultrasonography Bilaterally small testes (right 3.2 mL, left 2.8 mL) with microlithiasis; epididymides normal; no varicocele High-resolution scrotal USG
12 July Karyotype (G-banded 550-resolution) 46,XX (normal female karyotype, no structural abnormality) NABL-accredited lab
18 July FISH (SRY probe) Absence of SRY signal; no translocation to X or autosomes detected SRY (Yp11.31, orange); DYZ1 (Yq12, green); DXZ1 (Xp11.1-q11.1, blue)