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. Author manuscript; available in PMC: 2018 Jan 1.
Published in final edited form as: Horm Res Paediatr. 2016 Aug 24;87(4):264–270. doi: 10.1159/000448754

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