Table 1.
Clinical profile of PMDS patients
| CASE 1 | CASE 2 | CASE 3 | CASE 4 | |
|---|---|---|---|---|
| Age at presentation | 3 years | 25 days | 2.5 years | 2 days |
| Consanguinity | Yes | No | Yes | Yes |
| Cryptorchidism | Bilateral | Unilateral-right undescended testes | Bilateral | Unilateral-Left undescended testes |
| Hernia | No | Yes | No | No |
| Hypospadias | No | No | No | Perineal |
| Other LE findings | SPL- 4.5 cm | Phallus- 0.5 cm | SPL – 3 cm | Phallus 3 cm, bifid scrotum, right testes palpable in Rt labioscrotal fold |
| Bilaterally scrotal folds empty | Poorly developed scrotal sac, no rugosity; | Left testes about 2 ml size (post orchidopexy). | ||
| Left testes palpable peanut sized | Rt testes not palpable | |||
| 1 × 1 cm | ||||
| Bilateral inguinal hernia-reducible | ||||
| AMH (normal: 0.6- 13.7) | <0.02 ng/ml | 17.59 ng/ml | 0.03 ng/ml | >24.5 ng/ml |
| IMAGING (MRI) | Hypoplastic uterus 0.7 0.5 cm, rudimentary gonad like structure 0.6 × 0.5 cm in left inguinal region | Testes-like structure in left inguinal region 0.6 × 0.4 cm, small uterus like structure1.2 × 0.6 × 0.8 on the right side and bilateral congenital hernia with omentum | Uterus 2.5 × 1.6 × 1.2 cm | Uterus 2.8 × 0.7 cm in rectovescical pouch. Rt testes 1.8 × 1 cm in right hemiscrotum, surrounded by fluid collection. Lt testes 7.5 × 5.3 mm in left inguinal canal |
| Ovoid gonadal tissue without follicles noted in left iliac fossa region 1.4 × 0.7 cm | ||||
| No evidence of gonadal tissue in right inguinal region/ scrotal sac/RIF | ||||
| Laproscopy findings | Uterus and 2 gonads visualized | Planned | Uterus, cervix and 2 gonads visualized in the expected position of the ovaries | Planned |
| HPE | uterine tissue showing sheets of myometrium, sections from gonadsinfantile atrophic testicular tissue, no features of malignancy | NA | Sections from both right and left gonadal tissues revealed seminiferous tubules with focal atrophy | NA |
| Treatment | Removal of Mullerian structures+ bilateral orchidectomy. HCG 2000 IU IM weekly for 5 weeks. Planned for hormonal therapy at puberty | Hysterectomy and left orchidopexy planned | Removal of Mullerian structures+ Lt orchidopexy + Rt orchidectomy | Hysterectomy and left orchidopexy planned |