Table 1 Previously reported patients with homozygous DHH mutations – genetic results and clinical findings
Patient | DHH mutation | Presenting age, years | Gonads | Müllerian Structures | Neuropathy |
|---|---|---|---|---|---|
1 [11] | Exon 1, c.2 T > C Initiating codon predicting failure of translation | 21 | Streak testis and streak gonad | + | + Age 26 years |
2 [12] | Exon 2, c.485 T > C | 16 | Bilateral streak gonads | + | – |
3 [12] | Exon 3, c.1086delG Causes a stop codon, four codons after the deletion. | 19 | Bilateral streak gonads with bilateral gonadoblastoma | + | – |
4 [12] | Exon 3, c.1086delG Causes a stop codon, four codons after the deletion. | 26 | Bilateral streak gonads with bilateral dysgerminoma | + | – |
5 [13] | c.271_273delCAG | 26 | Bilateral streak gonads | Not reported | – |
6 [13] | Exon 1, c.57-60dupAGCC Frameshift mutation resulting in premature termination. | 17 | Bilateral streak gonads | + | – |
7a [14] | Exon 2, c.371G > A | 17 | Testis (L), Seminoma (R) (age 30 years) | – | + Early 20s |
8a [14] | Exon 2, c.371G > A | 17 | Bilateral testis with seminoma in situ (R) and gonadoblastoma (age 23 years) | – | + Age 30 years |
9 [15] | c.304-572_492dup | 16 | Undescended testis in left inguinal canal. Histopathology not reported. | – | + Age 43 years Associated skin and nail pigmentation and sole skin hyperkeratosis. |
c.304-572_492dup | 47 | Bilateral streak gonads | + | + Age 39Â years | |
11b [17] | Exon 2, c.519G > T | 26 | Histopathology unavailable with laparoscopy declined by patient | – | + Age 26 years Psychomotor retardation and dysmorphic features also reported |
12b [17] | Exon 2, c.519G > T | 23 | Histopathology unavailable with laparoscopy declined by patient | Possible residual structure on ultrasound | – |