| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24098470 |
Sertoli-ce
lls-onlysy
ndrome (SC
OS) and an
drogen ins
ensitivity
syndrome
(AIS)
|
|
|
77 (23 men with
obstructive az
oospermia, 33 m
en with SCOS az
oospermia and 2
1 volunteers wi
th normal semin
ograms)
|
Male infertility |
|
Show abstract |
| 22761458 |
Endometrio
sis
|
|
|
12 patients who
had undergone
evisceration fo
r ovarian endom
etrial cysts
|
Male infertility |
|
Show abstract |
| 8872466 |
Persistent
Müllerian
duct synd
rome
|
27 bp deletion in exon 10 of AMHRII, several mutations in AMH, AMHRII mutations identified |
|
38 families
|
Male infertility |
AMH
AMHR II
|
Show abstract |
| 26266675 |
Hypogonado
tropic hyp
ogonadism,
constitut
ional dela
y of growt
h and pube
rty
|
|
|
74 (24 boys wer
e diagnosed wit
h HH, 22 boys w
ith CDGP, pre-p
ubertal (PP CDG
P) at referral
and 28 boys wit
h CDGP)
|
Male infertility |
Inhibin B
AMH
INSL3
IGF1
IGFBP3 and DHEAS
|
Show abstract |
| 23869147 |
Ovarian re
sponse
|
|
|
56 subjects enr
olled for ICSI
|
Male infertility |
|
Show abstract |
| 18547961 |
Male infer
tility
|
27-bp deletion in the AMHR2 gene, p.A405P, p.G326V plus the p.V508A |
Italian
|
1 Persistentmul
lerian duct syn
drome (PMDS)
|
Male infertility |
AMH
AMHR2
|
Show abstract |
| 7962305 |
Androgen i
nsensitivi
ty
|
|
|
35 (20 patients
with defects o
f androgen synt
hesis or action
: 9 with comple
te androgen ins
ensitivity synd
rome, 9 with a
partial form, 1
patient with 3
beta-hydroxyst
eroid dehydroge
nase deficiency
, and 1 with Le
ydig cell agene
sis, 15 control
patients with
|
Male infertility |
|
Show abstract |
| 20826577 |
Hypogonado
tropic hyp
ogonadism
|
|
|
82 (16 had IHH,
15 congenital
HH within CPHD,
and 51 CDP)
|
Male infertility |
|
Show abstract |
| 20980953 |
Congenital
hypogonad
otropic hy
pogonadism
(HH)
|
|
|
67 (39 with con
stitutional pub
ertal delay, 15
isolated HH, 1
3pituitary stal
k interruption
syndrome withou
t HH)
|
Male infertility |
|
Show abstract |
| 10443662 |
Hypogonado
tropic hyp
ogonadism
|
|
|
50 (20 normal m
en, in 12 patie
nts with congen
ital hypogonado
tropic hypogona
dism (CHH), and
in 18 patients
with acquired
hypogonadotropi
c hypogonadism
(AHH))
|
Male infertility, Female infertility |
|
Show abstract |
| 22797409 |
Persistent
Müllerian
duct synd
rome (PMDS
)
|
c.208dup, p.Leu70fs |
|
1 Persistent Mü
llerian duct sy
ndrome (PMDS)
|
Male infertility |
|
Show abstract |
| 17020655 |
Testicular
function,
sexual di
fferentiat
ion disord
ers, gonad
al dysgene
sis, parti
al androge
n insensit
ivity, scr
otal hypos
padiasis,
|
|
|
79 (23 gonadal
dysgenesis, 4
PAIS, 16 scrota
l hypospadiasis
, 20 bilateral
cryptorchidism,
10 anorchia, 6
unilateral cry
ptorchidism)
|
Male infertility |
|
Show abstract |
| 10905384 |
Ambiguous
genitalia,
gonadal d
ysgenesis
(GD), 3bet
a-hydroxys
teroid deh
ydrogenase
deficienc
y (3betaHS
D), androg
en insensi
tivity syn
drome (AIS
), 5alpha
-reductase
2 (SRD5A2
) deficien
cy
|
|
|
24 patients wit
h sexual ambigu
ity and XY kary
otype (8 with g
onadal dysgenes
is (GD), 3 with
3beta-hydroxys
teroid dehydrog
enase deficienc
y (3betaHSD), 5
with androgen
insensitivity s
yndrome (AIS),
4 with 5alpha-r
eductase 2 (SRD
5A2)deficiency,
and 4 were of
|
Male infertility |
|
Show abstract |
| 8205615 |
Sex determ
ination
|
|
|
|
Male infertility, Female infertility |
|
Show abstract |
| 12352359 |
hypospadia
s
|
|
|
50 (29 boys wit
h distal hyposp
adias (midshaft
or less), 21 n
ormal boys unde
rgoing circumci
sion)
|
Male infertility |
|
Show abstract |
| 26671976 |
Monorchidi
sm
|
|
|
447 (89 boys wi
th monorchidism
, 358 healthy c
ontrols)
|
Male infertility |
AMH
FSH
|
Show abstract |
| 25026127 |
Persistent
Müllerian
duct synd
rome (PMDS
)
|
p.N486T, p.V527L |
Japanes
e
|
1 Persistent Mü
llerian duct sy
ndrome (PMDS)
|
Male infertility |
|
Show abstract |
| 24204987 |
Isolated h
ypogonadot
ropic hypo
gonadism (
HH)
|
|
|
46 boys with HH
|
Male infertility |
|
Show abstract |
| 23611722 |
Persistent
Mullerian
Duct Synd
rome (PMDS
), bilater
al cryptor
chidism
|
T to G base substitution was found at position 2219, near the middle of the exon 5, changing codon CTG to CGG in anti-Mullerian hormone (AMH) gene. This mutation causes leucine to be converted to arginine at position 426 belonging to a (L)RA(L)LLLKALQ hig |
|
1 bilateral cry
ptorchidism and
normal male ex
ternal genitali
a, Persistent M
ullerian Duct S
yndrome
|
Male infertility |
|
Show abstract |
| 23329751 |
Unilateral
orchiopex
y
|
|
|
50 boys who wer
e 1-4 years old
(median, 2.4 y
ears) with unil
ateral cryptorc
hidism
|
Male infertility |
|
Show abstract |
| 22246809 |
Unilateral
cryptorch
idism
|
|
|
|
Male infertility |
|
Show abstract |
| 22038452 |
Unilateral
cryptorch
idism, Und
escended t
estes
|
|
|
100 (50 patient
s with unilater
al cryptorchidi
sm, 50 controls
)
|
Male infertility |
|
Show abstract |
| 21486417 |
Spermatoge
nic failur
e, idiopat
hic azoosp
ermian, on
obstructiv
e azoosper
mia (NOA),
cryptorc
hidismand
obstructiv
e azoosper
mia (OA)
|
|
|
|
Male infertility |
|
Show abstract |
| 21285453 |
Male subfe
rtility, v
aricocele
|
|
|
92 (61 subferti
le men with var
icocele, 31 fer
tile controls)
|
Male infertility |
|
Show abstract |
| 21251056 |
Klinefelte
r syndrome
, cryptorc
hidism.
|
|
|
95 47,XXY patie
nts
|
Male infertility |
|
Show abstract |
| 21054481 |
Haematospe
rmia
|
|
|
|
Male infertility |
|
Show abstract |
| 20980953 |
Congenital
hypogonado
tropic hyp
ogonadism
|
|
|
67 (39 diagnose
d with constitu
tional pubertal
delay, 15 isol
ated HH, pituit
ary stalk inter
ruption syndrom
e (3a with [n=5
] and 3b [n=8]
without HH)
|
Male infertility |
AMH
inhibinB
|
Show abstract |
| 20923279 |
Non-obstru
ctive azoo
spermia, m
ale subfer
tility
|
|
|
54 (37 with NOA
, 17 fertile co
ntrols)
|
Male infertility |
|
Show abstract |
| 20172518 |
Nonobstruc
tive azoos
permia
|
|
|
139 men
|
Male infertility |
AMH
inhibin B
|
Show abstract |
| 18547961 |
Persistent
mullerian
duct synd
rome
|
27-bp deletion in the AMHR2 gene, p.A405P, p.G326V, p.V508A |
Italian
|
1 Persistentmul
lerian duct syn
drome (PMDS)
|
Male infertility |
AMH
AMHR2
|
Show abstract |
| 18423454 |
Reduced sp
erm concen
tration, M
aldescende
d testes
|
|
|
199 (108 with n
ormal, 60 men w
ith reduced spe
rm concentratio
n without known
cause of infer
tility, 31 infe
rtile men with
current or form
er maldescended
testes)
|
Male infertility |
|
Show abstract |
| 18321497 |
Azoospermi
a
|
|
|
82 (51 men with
azoospermia, 3
1 controls)
|
Male infertility |
FSH
INHB
AMH
|
Show abstract |
| 19032691 |
Male infer
tility
|
|
Caucasi
an
|
82 (30 normozoo
spermic healthy
controls, 52
oligoasthenozoo
spermic (OAT) m
ales)
|
Male infertility |
FSHR
AMH
|
Show abstract |
| 17926161 |
Male subfe
rtility, i
diopathic
non-obstru
ctive azoo
spermia, i
diopathic
non-obstru
ctive dysp
ermia, var
icocele, c
ryptorchid
ism
|
|
|
113 (82 subfert
ile men, 31 con
trols)
|
Male infertility |
|
Show abstract |
| 17462637 |
Disorders
of spermat
ogenesis,
nonobstruc
tive azoos
permia
|
|
|
|
Male infertility |
AMH
INHB
|
Show abstract |
| 17298717 |
Male facto
r infertil
ity, non-m
ale factor
infertili
ty
|
|
|
129 (66 male fa
ctor infertilit
y, non- male fa
ctor infertilit
y)
|
Male infertility |
AMH
INHB
|
Show abstract |
| 15163341 |
Varicocele
|
|
|
112 (7 prepuber
tal and 55 pube
rtal boys with
untreated grade
II or III vari
cocele, 7 prepu
bertal and 43 p
ubertal normal
boys were consi
dered as contro
ls)
|
Male infertility |
inhibin B and Pro-alphaC and AMH
|
Show abstract |
| 14745940 |
Persistent
Mullerian
duct synd
rome
|
27-bp deletion in exon 10 in one allele and a novel mutation in intron 5 in the other allele of the MISRII gene |
|
23 (1 46,XY mal
e with persiste
nt PMDS, 22 nor
mal individuals
)
|
Male infertility |
|
Show abstract |
| 14673134 |
Persistent
Mullerian
duct synd
rome
|
|
|
|
Male infertility |
|
Show abstract |
| 11760020 |
Persistent
Mullerian
duct synd
rome
|
|
|
2 brothers with
bilateral cryp
torchidism
|
Male infertility |
|
Show abstract |
| 12151437 |
Sertoli ce
ll-only sy
ndrome, ma
turation a
rrest
|
AZF microdeletions |
|
39 patients wit
h non-obstructi
ve azoospermia
|
Male infertility |
AMH
M2A
|
Show abstract |
| 12151437 |
Sertoli ce
ll-only sy
ndrome, ma
turation a
rrest
|
AZF microdeletions |
|
39 patients wit
h non-obstructi
ve azoospermia
|
Male infertility |
AMH
M2A
|
Show abstract |
| 11925392 |
Spermatoge
nesis
|
|
|
49 (39 oligozoo
spermic men, 10
normal men)
|
Male infertility |
|
Show abstract |
| 10438420 |
Non-obstru
ctive azoo
spermia, s
permatogen
esis
|
|
|
50 (18 fertile
donors, 9 obstr
uctive azoosper
mia after vasec
tomy or associa
ted with defere
nt duct agenesi
a; and group 3,
non-obstructiv
e azoospermia w
ith spermatogen
esis deficiency
and normal kar
yotype (n = 23)
)
|
Male infertility |
|
Show abstract |
| 10022428 |
Abnormal t
esticular
determinat
ion, impai
rment of t
estosteron
e secretio
n, defects
of male s
exual diff
erentiatio
n
|
|
|
107 patients wi
th ambiguous ge
nitalia of vari
ous etiologies.
In XY patients
|
Male infertility |
|
Show abstract |
| 1483695 |
Müllerian
duct syndr
ome
|
14-bp deletion |
|
|
Male infertility |
|
Show abstract |
| 2023927 |
Persistent
Müllerian
duct synd
rome (PMDS
)
|
a guanine to thymine transversion at position 2096 in the fifth exon changes a GAA triplet, coding for glutamic acid, to a TAA stop codon |
|
3 siblings with
Persistent Mül
lerian duct syn
drome (PMDS)
|
Male infertility |
|
Show abstract |
| 1676417 |
Cryptorchi
dism
|
|
|
208 (104 boys w
ith cryptorchid
ism, 104 age-ma
tched controls)
|
Male infertility |
|
Show abstract |
| 2562843 |
Persistent
Müllerian
duct synd
rome
|
|
|
6 boys includin
g three brother
s, with the per
sistent Mülleri
an duct syndrom
e
|
Male infertility |
|
Show abstract |
| 11925392 |
Spermatoge
nesis
|
|
|
49 (39 oligozoo
spermic men, 10
normal volunte
ers to examine
the association
of seminal AMH
with spermatog
enesis)
|
Male infertility |
|
Show abstract |
| 8737044 |
Sertoli-ce
ll-only (S
CO) syndro
me
|
|
|
|
Male infertility |
AMH
vimentin
cytokeratin
|
Show abstract |
| 25269872 |
Asthenozoo
spermia
|
|
|
153 (52 normal,
55 high sperm
count, 23 asthe
nozoospermia, 2
3 oligozoosperm
ia)
|
Male infertility |
AMH
inhibin B
|
Show abstract |
| 20569102 |
Male infer
tility
|
|
|
77 (41 patients
with azospermi
a, 14 patients
with oligosperm
ia, and 22 pati
ents with norma
l count )
|
Male infertility |
AMH
|
Show abstract |
| 16785146 |
Non- obstr
uctive azo
ospermia
|
|
|
47 (24 infertil
e patients diag
nosed with non-
obstructive azo
ospermia, 23 no
rmozoospermic f
ertile men)
|
Male infertility |
AMH
|
Show abstract |
| 10438420 |
Non-obstru
ctive azoo
spermia
|
|
|
50 (18 fertile
donors, 9 obstr
uctive azoopser
mia, 23 non-obs
tructive azoosp
ermia with sper
matogenesis def
iciency and nor
mal karyotype)
|
Male infertility |
AMH
|
Show abstract |