Table 2 Clinical findings of the two patients.

Karyotype

46,XY

46,XY

Social sex

Male

Male

Present age

7.8 years

5.5 years

Age at examination

2.4 years

6 months

Genital findings

 Testis size

1.0 mL (bilateral)

 < 1.0 mL (bilateral)

1.3 ± 0.3

 Hypospadias

Yes (penile type)

Yes (penile type)

 Chordee

Yes

No data

 Cryptorchidism

No

Bilateral (inguinal)

 Penile length

2.5–3.0 cm

1.8 cm

3.3 ± 0.4 (for patient 1); 3.1 ± 0.4 (for patient 2)

(after TE 25 mg i.m., 3ʹ)

(after TE 25 mg i.m., 3ʹ)

 Uterus/vagina

Absent on MRI

Absent on MRI

Endocrine findings

 LH (IU/mL)

  Baseline^a

< 0.3

6.6

 < 0.4

  Peak^a

1.1

108.7

0.4–6.0

 FSH (IU/mL)

  Baseline^a

1.1

71.3

0.6–3.0

  Peak^a

8.0

238.5

6.3–15.6

 Testosterone (nmol/L)

  Baseline^b

< 0.10

1.56

0.10–0.45

  Stimulated^b

5.79

3.50

 > 6.93

 DHT (nmol/L)

  Baseline^b

Not measured

Not measured

  Stimulated^b

0.18

0.24

No reference

 T/DHT ratio

  Stimulated^b

9.3

4.2

< 10.5

 AMH (pmol/L)

  Baseline

449.3

16.4

699 ± 245 (for patient 1); 793 ± 264 (for patient 2)

Treatment

Orchidopexy

No

1.0 and 2.2 years

Urethroplasty

11 months and 2.1 years

3.2 years

Chordee repair

11 months

No

Penile length after Tx

3.0 cm at 3.5 years after further Tx with TE 25 mg i.m., 1ʹ and DHT topical ointment for 3 months

2.3 cm at 2.3 years after further Tx with TE 25 mg i.m., 2ʹ and DHT topical ointment for 5 months

3.4 ± 1.0 (for patient 1); 3.3 ± 0.4 (for patient 2)