Table 1 Clinical data of reported patients.

From: DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia

Individual

Age, nationality

Genotype

Fertility

parameters

Gonadal phenotype,

TESE outcome

Additional clinical features

M2171

31 y, German, not consanguineous

DDX3Y:

g.15,028,547del

c.1609+1del

r.1609del

p.(Gly537Alafs*12)

de novo

FSH: 18.1

LH: 4.9

T: 10.58

TV: 9/12

Azoospermia

Sertoli cell-only (SCO),

No sperm retrieved

Hypertonia (20 y)

M2185

37 y, German, not consanguineous

DDX3Y:

g.15,027,902dup

c.1272dup

p.(Lys425*)

FSH: 6.1/9.8

LH: 6.7

T: 22.14

TV: 7/9

Azoospermia

SCO,

No sperm retrieved

Delayed puberty,

Hypertonia (29 y)

M3086

34 y, German, not consanguineous

DDX3Y:

g.15,024,785dup

c.428dup p.(Glu145Glyfs*13)

FSH: 30.9

LH: 5.3

T: 8.23

TV: 10/10

Azoospermia

SCO,

No sperm retrieved

/

GEMINI-492

43 y, Estonian, not consanguineous

DDX3Y:

g.15,027,860_15,027,861del

c.1230_1231del p.(Asn412Hisfs*13)

FSH: 27.2

LH: 9.3

T: 8.4

TV: 10/10

Azoospermia

No biopsy performed

Delayed puberty

  1. Reference values: FSH 1–7 IU/L, LH 2–10 IU/L, T > 12 nmol/L, TV > 12 mL per testis.
  2. TESE testicular sperm extraction, FSH follicle stimulating hormone (IU/L), LH luteinizing hormone (IU/L), T testosterone (nmol/L), TV testicular volume right/left (mL), y years.
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