Table 1.
ID | GA | Clinic Visit |
Phallic Stretched Length** |
Phallic Midshaft Diameter** |
Hypospadias Degree |
Gonadal Location |
Testosterone*** (ng/dL) |
DHT*** (pg/mL) |
LH*** (IU/L) |
FSH*** (IU/L) |
Clinical AR Sequencing |
Non-GU Abnormalities |
---|---|---|---|---|---|---|---|---|---|---|---|---|
| ||||||||||||
1* | 39.1 | Both | 2.1 | 0.9 | Penoscrotal | Scrotal | 195 | 193 | 4.34 | NR | Y, no diagnosis | None |
| ||||||||||||
2* | 40.9 | Both | 2 | 1 | Perineal | Scrotal | 177 | 301 | 8.93 | 7.97 | N | None |
3 | 40.0 | Urology | NR | NR | No hypospadias | Scrotal | NR | NR | NR | NR | N | Tethered cord, anteriorly placed anus, renal abnormalities |
| ||||||||||||
4 | 33.0 | Both | 2.5 | 1.1 | Penoscrotal | Scrotal | 132 | 462 | 3 | 3.34 | N | Intrauterine growth restriction |
| ||||||||||||
5 | 41.0 | Both | 3.2 | 1.1 | Perineal | Inguinal | NR | NR | NR | NR | N | None |
6 | 34.7 | Both | NR | NR | Scrotal | Scrotal | 207 | 71 | NR | NR | Y, no diagnosis | None |
| ||||||||||||
7 | 37.0 | Both | NR | NR | Scrotal | Scrotal | NR | NR | NR | NR | N | Global developmental delay |
8 | 35.3 | Urology | NR | NR | Penoscrotal | Scrotal | NR | NR | NR | NR | N | None |
| ||||||||||||
9 | 39.1 | Urology | NR | NR | Glanular | Scrotal | NR | NR | NR | NR | N | Ventricular Septal Defect |
| ||||||||||||
10 | 39.0 | Both | 2 | 1.1 | Perineal | Scrotal | 85.9 | 29 | 5.23 | 4.62 | N | None |
GA, Gestational age in weeks
NR, not reported
Clinic visit: Endocrinology, Urology or both (at any point in the EMR)
Testosterone: ng/dL * 0.03467 = nmol/L
Dihydrotestosterone: pg/mL * 0.003443 = nmol/L
Subjects found to have NR5A1 presumed pathogenic variants
In cm, initial measurement reported between birth and 3 months of age)
Baseline measurement between 2 weeks and 3 months