Table 1 Summary of clinical laboratory evaluation for infertile males.

From: X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

ID#

Age

Sperm count

Semen volume (mL)

pH

T*, (3–12 ng/mL)

PRL**, (units vary)

FSH, (1.5–12.4 IU/L)

LH, (1.8–8.6 IU/L)

Scrotal ultrasound testing

Karyotype

AZFs del

ADGRG2 Mutation

III.3

42

0

0.9

7.0

1.9

10 ng/mL (0–20 ng/mL)

4.3

3.1

bilateral mild hydro cele, left varicocele, 2.3 × 3.1 cm (right), 2.1 × 3 cm (left)

Normal 46, XY male

Norm

c.2440C > T

III.5

29

0

1

7.0

2.1

NA

6.5

5.8

NA

NA

Norm

c.2440C > T

III.13

35

0

1.2

8.0

2.95

162 IU/L (0–425 uIU/mL)

9.07

7.55

Hypotrophy, 1.3 × 1.6 cm (right), 1.2 × 1.3 cm (left)

Normal 46, XY male

Norm

c.2440C > T

  1. Semen analysis of III.3, III.5, and III.13 males indicated low semen volume (<1.5 mL) and slightly acidic semen pH (<7.2) in III.3 and III.5 males, both characteristic of obstructive azoospermia. Due to absent sperm, other testing, such as motility and morphology, was not performed. Abnormal values are indicated in bold. T: testosterone, PRL: prolactin, FSH: follicle stimulating hormone, LH: luteinizing hormone, AZFs: Y chromosome regions AZFa, AZFb, and AZFc. Results indicated as “NA” were not collected. “Norm” designates normal findings. T*- Testosterone levels were collected outside of the recommended timeframe (7am-10am). PRL** - different units used by different laboratories.