Table 4 Histological aspects of gonads encountered in the study groups, based on the reading template
From: A novel morphological approach to gonads in disorders of sex development
1—46,XY disorders of sex development with disorders in hormonal synthesis or action | ||
|---|---|---|
1A—46,XY disorders of sex development with androgen biosynthesis defect and disorders of anti-Mullerian hormone and anti-Mullerian hormone receptor | Patients, n=13 Specimen, n=23 (biopsy, n=9; gonadectomy, n=14) | Comments |
Testis | 100% (23/23) | |
Ovary | 0% (0/23) | |
Architecture | ||
Normal | 100% (23/23) | |
Abnormal | 0% (0/23) | |
Seminiferous tubules | ||
Normal | 100% (23/23) | |
Abnormal | 0% (0/23) | |
Germ cells | ||
Normal amount | 26% (6/23) | From 2 to 16 months old |
Germ cell hypoplasia | 74% (17/23) | From 12 months old |
Interstitium | ||
Normal, edematous | 100% (23/23) | |
Fibroblastic | 0% (0/23) | |
Additional criteria | ||
Atrophy | 17% (4/23) | 2 patients after the age of puberty (161 and 218 months old) |
Undifferentiated gonadal tissue | 0% (0/23) | |
Tumor | 0% (0/23) | |
1B—46,XY disorders of sex development with defect in androgen action | Patients, n=16 Specimen, n=38 (biopsy, n=7; gonadectomy, n=31) | Comments |
|---|---|---|
Testis | 100% (38/38) | |
Ovary | 0% (0/38) | |
Architecture | ||
Normal | 100% (38/38) | |
Abnormal | 0% (0/38) | |
Seminiferous tubules | ||
Normal | 100% (38/38) | |
Abnormal | 0% (38/38) | |
Germ cells | ||
Normal amount | 29% (11/38) | From 1 week to 21 months old |
Germ cell hypoplasia | 71% (27/38) | From 1 month old |
Interstitium | ||
Normal, edematous | 100% (38/38) | |
Fibroblastic | 0% (0/38) | |
Additional criteria | ||
Atrophy | 26% (10/38) | Patients beyond puberty (>14 years old) |
Undifferentiated gonadal tissue | 0% (0/38) | |
Tumor | Hamartoma 8% (3/38) | Patients with complete androgen insensitivity syndrome beyond puberty (>14 years old) |
Sertoli cell (micro) adenoma 11% (4/38) | ||
‘Pre-germ cell neoplasia in situ’ 17% (3/18) | Patients beyond puberty (>14 years old) | |
2—46,XY disorders of sex development with disorders of gonadal development | Patients, n=18 Specimen, n=36 (biopsy, n=2; gonadectomy, n=22; autopsy, n=12) | Comments |
|---|---|---|
Testis | 100% (36/36) | |
Ovary | 0% (0/36) | |
Architecture | ||
Normal | 47% (17/36) | |
Abnormal | 53% (19/36) | Moderate dysplasia 11% (4/36) Severe dysplasia 25% (9/36) Streak 8% (3/36) |
Seminiferous tubules | ||
Normal | 47% (17/36) | |
Abnormal | 53% (19/36) | |
Germ cells (in normal seminiferous tubules) | ||
Normal amount | 14% (5/36) | |
Germ cell hypoplasia | 33% (12/36) | |
Interstitium | ||
Normal, edematous | 47% (17/36) | |
Fibroblastic | 53% (19/36) | |
Additional criteria | ||
Atrophy | 0% (0/36) | |
Undifferentiated gonadal tissue | 31% (11/36) | |
Tumor | Gonadoblastoma 19% (7/36) | From birth to 204 months old |
Dysgerminoma+choriocarcinoma 3% (1/36) | SRY mutation—150 months old | |
Dysgerminoma 3% (1/36) | SRY mutation—204 months old | |
Teratoma with somatic-type malignancy 3% (1/36) | DAX1 duplication—151 months old | |
3—Sex chromosome mosaicism/mixed gonadal dysgenesis | Patients, n=18 Specimen, n=35 (biopsy, n=5; gonadectomy, n=36; fetal autopsy, n=4) | Comments |
|---|---|---|
Testis | 100% (35/35) | |
Ovary | 0% (0/35) | |
Architecture | ||
Normal | 11% (4/35) | |
Abnormal | 89% (31/35) | Mild dysplasia 23% (8/35) Moderate dysplasia 9% (3/35) Severe dysplasia 17% (6/35) Streak 40% (14/35) |
Seminiferous tubules | ||
Normal | 11% (4/35) | |
Abnormal | 89% (31/35) | |
Germ cells (in normal seminiferous tubules) | ||
Normal amount | 3% (1/35) | |
Germ cell hypoplasia | 9% (3/35) | |
Interstitium | ||
Normal, edematous | 11% (4/35) | |
Fibroblastic | 89% (31/35) | |
Additional criteria | ||
Atrophy | 0% (0/35) | |
Undifferentiated gonadal tissue | 49% (17/35) | |
Tumor | Gonadoblastoma 6% (2/35) | 1 patient (158 months old) |
4—Undetermined etiology disorders of sex development | Patients, n=15 Specimen, n=30 (biopsy, n=11; gonadectomy, n=15; fetal autopsy, n=4) | Comments |
|---|---|---|
Testis | 100% (30/30) | |
Ovary | 0% (0/30) | |
Architecture | ||
Normal | 50% (15/30) | |
Abnormal | 50% (15/30) | Mild dysplasia 7% (2/30) Moderate dysplasia 3% (1/30) Severe dysplasia 13% (4/30) Streak 27% (8/30) |
Seminiferous tubules | ||
Normal | 50% (15/30) | |
Abnormal | 50% (15/30) | |
Germ cells (in normal seminiferous tubules) | ||
Normal amount | 27% (8/30) | |
Germ cell hypoplasia | 23% (7/30) | |
Interstitium | ||
Normal, edematous | 50% (15/30) | |
Fibroblastic | 50% (15/30) | |
Additional criteria | ||
Atrophy | 0% (0/30) | |
Undifferentiated gonadal tissue | 33% (10/30) | |
Tumor | 0% (0/30) | |
5—Ovotesticular syndrome | Patients, n=6 Specimen, n=13 (biopsy, n=3; gonadectomy, n=10) | Comments |
|---|---|---|
Testis | 46% (6/13) | |
Ovary | 23% (3/13) | |
Ovotestis | 23% (3/13) | |
Architecture | ||
Normal | Ovary: 100% (3/3) Testis: 31% of gonads (4/13) | |
Abnormal | Testis and testicular part of ovotestis: 33% (3/9) | Various levels of dysplasia |
Seminiferous tubules | ||
Normal | Testis and testicular part of ovotestis: 67% (6/9) | |
Abnormal | Testis and testicular part of ovotestis: 33% (3/9) | |
Germ cells | ||
Normal amount | 23% (3/13) | Ovaries and ovarian part of ovotestis germ cell count remained normal |
Germ cell hypoplasia | 100% (9/9) | In seminiferous tubules of testis and testicular part of ovotestis |
Interstitium | ||
Normal, edematous | Testis and testicular part of ovotestis: 67% (6/9) | |
Fibroblastic | Testis and testicular part of ovotestis: 33% (3/9) | |
Additional criteria | ||
Atrophy | 0% (0/13) | |
Undifferentiated gonadal tissue | 0% (0/13) | |
Tumor | Mature teratoma 8% (1/13) | |
