*306100 GONADAL DYSGENESIS, XY FEMALE TYPE;
GDXY
Alternative
titles; symbols
SWYER SYNDROME
TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL; TDFX,
INCLUDED
SEX-REVERSING LOCUS ON X, INCLUDED; SRVX,
INCLUDED
table OF
CONTENTS
"38
MEDLINE Citations"
"6 Protein Links"
"2 Nucleotide Links"
"1 Genome Link"
"1 Structure Link" "Gene
Map" "Coriell
Cell Line Repository" "Nomenclature
Database" "OMIA
(Online Mendelian Inheritance in Animals)"
X-CLARIS-USEIMAGEwidth X-CLARIS-USEIMAGEheight
border=0 ALIGN=middle>
Gene Map Locus: Xp22.11-p21.2
Note: pressing the 
symbol will find the citations in MEDLINE whose
text most closely matches the text of the preceding
OMIM paragraph, using the Entrez MEDLINE
neighboring function.
TEXT
-
DESCRIPTION
- Gonadal dysgenesis, XY female type, is
associated with point mutations or deletions of
the SRY gene (480000),
but also in some cases with changes in the X
chromosome.
At birth the patients with the XY female type
of gonadal dysgenesis (Swyer syndrome) appear to
be normal females; however, they do not develop
secondary sexual characteristics at puberty, do
not menstruate, and have 'streak gonads.' They
are chromatin negative and have a 46,XY
karyotype.
-
CLINICAL
FEATURES
- Affected sisters were reported by Cohen
and Shaw (1965), and twins by Frasier
et al. (1964). Sternberg
et al. (1968) observed 3 cases, each in a
different sibship of a family connected through
normal females (proposita, maternal cousin, and
maternal aunt). A high incidence of neoplasia
(gonadoblastomas and germinomas) in streak
gonads of patients with the XY karyotype was
claimed by Taylor et al.
(1966).
Patients are of normal stature and have no
somatic stigmata of Turner syndrome except, of
course, the lack of secondary sexual
characteristics and streak gonads. In this
condition, as in the testicular feminization
syndrome (300068),
it was at first unclear whether the gene that
was responsible was on the X chromosome or on an
autosome and expressed only in chromosomal
males. Whether the abnormal gene directly
suppresses testis-determining loci on the
chromosome or blocks some early stage of
testicular morphogenesis was also unknown. The
sisters reported by Cohen
and Shaw (1965) had a marker autosome, which
was present also in the mother. They referred to
another instance of XY 'sisters' with an
abnormal autosome. One of their 2 patients had
gonadoblastoma.
Two sisters reported by Fine
et al. (1962) were of normal stature but
were chromatin negative. One of these cases and
1 of those reported by Baron
et al. (1962) had gonadoblastoma. In the
last family, 2 'females' and a male were
affected, the male showing no testes. All 3 sibs
were sex-chromatin negative. Barr
et al. (1967) reported on a sibship
containing 2 genetic males. The first, who had
male pseudohermaphroditism, was reared as a
female; he developed signs of masculinization at
puberty and had undescended but otherwise normal
testes and small fallopian tubes. The second
genetic male (180 cm tall) had pure gonadal
dysgenesis with small uterus and streak gonads.
This patient was at first thought to have the
testicular feminization syndrome. An unaffected
sister had a son with perineal hypospadias
(urethral orifice at the base of the penis). The
sibship reported by Chemke
et al. (1970) was similar to that of
Barr et al. (1967).
Espiner et al. (1970)
described 5 XY females in 3 sibships of 2
generations. They emphasized that the affected
persons were unusually tall for females. The
height of patients with XY gonadal dysgenesis
(unusually great for females) is probably
explained by androgen production in the streak
gonad (Rose et al.,
1974). Clitoromegaly is present in some
cases.
Rushton (1979)
pointed out that the streak gonads of this
disorder differ from those of the 45,X Turner
syndrome in the presence of calcification and
the increased hazard of gonadoblastoma.
Comparative studies of the frequency of
gonadoblastoma in Turner mosaics with normal or
rearranged Y chromosomes have suggested that the
integrity of the Y chromosome, and in particular
the presence of the distal fluorescent band Yqh,
is required in these mosaics for the tumor to
develop; no cases with distal deletions of the
fluorescent band on Yq had been reported
(Lukusa et al.,
1986).
Moreira-Filho et al.
(1979) suggested that there are 3 forms of
Swyer syndrome (defined as streak gonads without
other somatic features of the Turner syndrome
and with a normal 46,XY karyotype). (1) Sporadic
testicular agenesis syndrome (STAS) corresponds
to H-Y negative Swyer syndrome. (2) Familial
testicular agenesis syndrome (FTAS) is H-Y
negative Swyer syndrome showing an X-linked
recessive pedigree pattern. The mutation is
probably homologous to that of the wood lemming.
The phenotype of STAS and FTAS is identical even
though the mutation is probably on the Y in STAS
and on the X in FTAS. (3) In familial testicular
dysgenesis syndrome (FTDS), the patients are H-Y
positive and have a female phenotype and streak
gonads; the streak gonads may contain
testis-like tumoral structures. (See report of 3
sisters by Moreira-Filho
et al. (1979) and cases of Wolf
(1979).) The XY gonadal agenesis syndrome is
a separate disorder (see 273250).
Passarge and Wolf
(1981) pointed out that there are 2 groups
of patients with XY gonadal dysgenesis (Swyer
syndrome) and that each of these may be
heterogeneous. One group is the H-Y
antigen-positive form, which may represent a
'receptor disease.' The second is the H-Y
antigen-negative form, which may be due to
mutation in the H-Y generating system, either of
the structural gene (presumably autosomal) or of
a controlling gene (on the sex chromosomes). It
may be only the H-Y antigen-positive cases that
are at risk for gonadoblastoma or dysgerminoma.
See 233300
for discussion of the XX type of gonadal
dysgenesis.
-
INHERITANCE
- Simpson et al.
(1981) reported 3 pedigrees of XY gonadal
dysgenesis consistent with X-linked inheritance.
German et al.
(1978) suggested that there is a gene on the
X chromosome that blocks the testis-determining
function of H-Y (which was then a leading
candidate for TDF, testis-determining factor).
However, it was later shown that TDF and H-Y
antigen map to different parts of the Y
chromosome with TDF being absent and H-Y antigen
being present in XY females with Y short arm
deletions (Simpson et
al., 1987). See 278850.
It appeared that 46,XY women had premature
ovarian involution, with resulting 'streak
gonads.' Families such as that of Barr
et al. (1967) described above may indicate
that the mutation is 'leaky.' The pedigree
pattern was equally consistent with X-linked
recessive or autosomal dominant inheritance.
Indeed, Allard et al.
(1972) observed transmission through a
normal male, arguing for autosomal inheritance.
Nazareth et al.
(1979) found H-Y positivity in a sporadic
case occurring in an offspring of first-cousin
parents. They favored recessive inheritance; see
233420.
-
CYTOGENETICS
- De Arce et al.
(1992) contributed further support of this
hypothesis by demonstrating lack of
gonadoblastoma in a 14-year-old girl who was a
mosaic for 45X/46X-isodicentric Y. The anomalous
Y chromosome showed no fluorescent distal Yq. In
another patient, an 8-year-old girl with
45X/46XY karyotype, bilateral gonadoblastoma
developed in her rudimentary ovaries at the age
of 8. Her normal Y chromosome showed the
characteristic distal fluorescence seen in her
father's Y chromosome. Using Y chromosome
probes, De Arce et al.
(1992) demonstrated the Y chromosome in the
paraffin blocks of the ovarian tissue of both
girls.
Wachtel (1979) and
Wachtel et al. (1980)
suggested the existence of 4 'causes' of XY
gonadal dysgenesis: (1) mutational suppression
of H-Y structural genes by regulatory elements
of the X chromosome or failure of an X-linked
structural gene (in association with H-Y
negative somatic cell phenotype); (2) failure of
H-Y antigen to engage its gonadal receptor (in
association with the H-Y positive somatic cell
phenotype); (3) loss of the critical moiety of
H-Y genes in deleted or translocated Y
chromosome (in association with H-Y negative or
intermediate somatic cell phenotype); and (4)
presence of XY-XO mosaicism.
(Small deletions in the short arm of the Y
chromosome can result in 46,XY females
(Disteche et al.,
1986). The 2 patients reported by Disteche
et al. (1986) had some signs of Turner
syndrome, including congenital lymphedema and
primary amenorrhea with streak gonads, but were
of normal height. One of the patients had
bilateral gonadoblastoma. Several
Y-chromosome-specific DNA probes were found to
be deleted in the 2 patients. DNA analysis
showed that the 2 deletions were different, but
included a common overlapping region likely to
contain the testis-determining factor (TDF)
gene.)
Bernstein et al.
(1980) observed an abnormal band on Xp in a
46,XY female and her 46,XY female fetal sib.
Despite the presence of an intact Y chromosome,
neither had testicular differentiation and both
were H-Y negative. Giemsa banding suggested
duplication of p21 and p22. The maternal
grandmother, mother and a younger sister, all
phenotypically normal, had a karyotype 46,XXp+.
The proband had profound psychomotor
retardation, and both sibs had multiple
congenital malformations. (The second sib was
ascertained by amniocentesis for prenatal
diagnosis followed by elective abortion.)
Multiple congenital anomalies in the proband
included ventricular septal defect, cleft
palate, asymmetric skull and facies, prognathic
jaw, low-set ears, and clinodactyly V. When the
girl died at 5 year of age, postmortem studies
showed hypoplastic uterus and fallopian tubes.
Histologic examination of the uterine adnexa
revealed an area of ovarian stroma with
scattered degenerative follicles. There was no
testicular morphology, and the external
genitalia were those of a normal 5-year-old
female. The second affected sib, the product of
a pregnancy terminated at 20 weeks, showed
ovaries containing numerous follicles and germ
cells. As in the proband, there was no evidence
of testicular morphology. Wachtel
(1998) referred to other cases of XY sex
reversal in subjects with Xp duplication and
chromosomal abnormalities resembling those in
the family reported by Bernstein
et al. (1980). This suggested occurrence of
a gene on Xp, duplication of which can block
development of the testis in an XY fetus. The
gonads begin to develop as ovaries, but in the
absence of the second X chromosome, the germ
cells die, the follicles become atretic, and the
ovaries degenerate.
Cytogenetic duplication of the X chromosome
in males is a rare event usually characterized
by a significant degree of phenotypic
abnormality, which can include sex reversal
despite an apparently normal Y chromosome.
Arn et al. (1994)
reported 2 half-brothers with maternally
inherited cytogenetic duplications of Xp and sex
reversal; the absence of dysmorphic features in
mother and children was thought to be because of
the relatively small extent of the duplication.
Comparison with previous reports allowed the
putative sex reversing locus (SRVX) to be
assigned to a 5- to 10-Mb segment between
Xp22.11 and Xp21.2, which includes the DMD
locus. The regional assignment may help in the
isolation of SRVX mutations that may cause sex
reversal in the 90% of sex-reversed women with
XY gonadal dysgenesis who do not have detectable
mutations of the SRY gene.
-
MAPPING
- Mapping studies by hybridization to DNA from
somatic cell hybrids containing various
fragments of the X chromosome suggested that the
sequence on the X chromosome maps to region
Xp22.3-p21.
-
MOLECULAR
GENETICS
- Page et al.
(1987) cloned a 230-kb segment of the human
Y chromosome thought to contain some or all of
the TDF gene. The cloned region spanned the
deletion in a female who carried all but 160 kb
of the Y. Homologous sequences were found within
the sex-determining region of the mouse Y
chromosome.
Jager et al.
(1990) demonstrated a mutation in SRY in 1
out of 12 sex-reversed XY females with gonadal
dysgenesis who had no large deletions of the
short arm of the Y chromosome. They found a
4-nucleotide deletion in the part of the SRY
gene that encodes a conserved DNA-binding motif.
A frameshift presumably led to a nonfunctional
protein. Mutation occurred de novo, because the
father had a normal SRY sequence. This is strong
evidence that SRY is TDF. The de novo G-to-A
mutation led to a change from methionine to
isoleucine at a residue that lies within the
putative DNA-binding motif of SRY and is
identical in all SRY and SRY-related genes. (TDF
and SRY are written Tdy and Sry in the mouse.)
HETEROGENEITY
- Vilain et al.
(1992) described a family in which all 5 XY
individuals in 2 generations had a single
basepair substitution resulting in an amino acid
change in the conserved domain of the SRY open
reading frame (480000.0004).
A G-to-C change at nucleotide 588 resulted in
substitution of leucine for valine. Three of the
individuals were XY sex-reversed females and 2
were XY males. One of the males had 8 children;
all were phenotypic females, 2 of whom were
sex-reversed XY females carrying the mutation
mentioned. Several models were proposed to
explain association between a sequence variant
in SRY and 2 alternative sex phenotypes. These
included the existence of alleles at an unlinked
locus.
McElreavey et al.
(1992) described an XY sex-reversed female
with pure gonadal dysgenesis who harbored a de
novo nonsense mutation in SRY, which resulted
directly in the formation of a stop codon in the
putative DNA-binding motif. A C-to-T transition
at nucleotide 687 changed a glutamine codon
(CAG) to a termination codon (TAG); see
480000.0005.
The patient, referred to as the 'propositus,'
was a phenotypic female who presented at age 20
years for primary amenorrhea. Treatment with
estrogen induced menstruation and slight
enlargement of the breasts which were
underdeveloped. Laparotomy showed 2 streak
gonads without germ cells or remnants of tubes.
Harley et al.
(1992) found point mutations in the region
of the SRY gene encoding the high mobility group
(HMG) box in 5 XY females. (The HMG box is
related to that present in the T-cell-specific,
DNA binding protein TCF-1 (142410).)
In 4 cases, the binding activity of mutant SRY
protein for the AACAAAG core sequence was
negligible; in the fifth case, DNA binding was
reduced. In the SRY gene in a 46,XY female,
Muller et al. (1992)
demonstrated an A-to-T transversion of
nucleotide 684 in the open reading frame,
resulting in a change of lysine (AAG) to a stop
codon (UAG) The patient had gonadoblastoma.
-
PATHOGENESIS
- Page et al.
(1987) advanced several hypotheses to
explain the existence of the X-linked locus. One
hypothesis was inconsistent with the prevailing
notion of a dominantly acting sex-determining
factor unique to the Y chromosome and suggested
that the X and Y loci are functionally
interchangeable, that both are testis
determining, and that the X locus is subject to
X-chromosome inactivation. According to this
model, sex is determined by the total number of
expressed X and Y loci: a single dose is female
determining, while a double (or greater) dose is
male determining. The addition of an X-derived
transgene to the genome of an XX embryo should
result in testis differentiation, as long as
that transgene is not subject to X inactivation.
Increased expression of the X-chromosomal locus
could explain the presence of testicular tissue
in XX hermaphrodites and the rare Y-negative XX
males, who lack the TDF locus of the Y
chromosome. Although some XY females lack TDF as
judged by Y-DNA analysis, others do not have
discernible deletions. These unexplained XY
females may have point mutations in TDF or in
genes that function in conjunction with or
downstream of TDF. The model mentioned above
suggests that mutation in the X-chromosomal
locus (at Xp22.3-p21) could cause XY embryos to
develop as females.
However, Berta et al.
(1990) and Jager et
al. (1990) presented compelling evidence
that the mutation in one type of XY female
gonadal dysgenesis is not on the X but on the Y
chromosome. In the human sex-determining region
in a 35-kb interval near the pseudoautosomal
boundary of the Y chromosome, there is a
candidate gene for testis-determining factor,
termed SRY ('sex-reversed, Y,' from mouse
terminology), which is conserved and specific to
the Y chromosome in all mammals tested
(Sinclair et al.,
1990); see 480000.
(Cherfas (1991) stated
that SRY stands for 'sex-determining region Y.'
This is a nice presumption and perhaps in its
present usage should be so considered, but it
does not indicate the true historical
derivation.)
-
CLINICAL
MANAGEMENT
- Moreira-Filho et al.
(1979) suggested that the H-Y antigen status
in the Swyer syndrome may be a useful indicator
of whether removal of the gonads is necessary to
avoid malignancy.
-
SEE ALSO
- Boczkowski (1976)
; Ghosh et al. (1978)
; Herbst et al.
(1978) ; Judd et al.
(1970) ; Koopman et
al. (1991) ; Koopman
et al. (1990) ; Mann
et al. (1983) ; Wolf
et al. (1980)
REFERENCES
- 1. Allard, S.;
Cadotte, M.; Boivin, Y. :
- Dysgenesie gonadique pure familiare
et gonadoblastome. Un. Med.
Canada 101: 448-452, 1972.
- 2. Arn, P.; Chen,
H.; Tuck-Muller, C. M.; Mankinen, C.; Wachtel,
G.; Li, S.; Shen, C. C.; Wachtel, S. S. :
- SRVX, a sex reversing locus in
Xp21.2-p22.11. Hum. Genet. 93:
389-393, 1994.
PubMed ID : 8168809
- 3. Baron, J.; Rucki,
T.; Simm, S. :
- Familial gonadal
malformations. Gynaecologia
153: 298-308, 1962.
- 4. Barr, M. L.;
Carr, D. H.; Plunkett, E. R.; Soltan, H. C.;
Wiens, R. G. :
- Male pseudohermaphroditism and pure
gonadal dysgenesis in sisters. Am.
J. Obstet. Gynec. 99: 1047-1055, 1967.
PubMed ID : 6070891
- 5. Bernstein, R.;
Koo, G. C.; Wachtel, S. S. :
- Abnormalities of the X-chromosome in
46,XY female sibs with ovaries.
Science 207: 768-769, 1980.
PubMed ID : 7352285
- 6. Berta, P.;
Hawkins, J. R.; Sinclair, A. H.; Taylor, A.;
Griffiths, B. L.; Goodfellow, P. N.; Fellous, M.
:
- Genetic evidence equating SRY and
the testis-determining factor.
Nature 348: 448-450, 1990.
PubMed ID : 2247149
- 7. Boczkowski, K.
:
- Familial occurrence of gonadal
tumors in XY females with breast
development. Hum. Genet. 33:
289-294, 1976.
PubMed ID : 987012
- 8. Chemke, J.;
Carmichael, R.; Stewart, J. M.; Geer, R. H.;
Robinson, A. :
- Familial XY gonadal
dysgenesis. J. Med. Genet. 7:
105-111, 1970.
PubMed ID : 5519594
- 9. Cherfas, J.
:
- Sex and the single gene.
Science 252: 782 only, 1991.
PubMed ID : 2028253
- 10. Cohen, M. M.;
Shaw, M. W. :
- Two XY siblings with gonadal
dysgenesis and a female phenotype.
New Eng. J. Med. 272: 1083-1088, 1965.
- 11. De Arce, M. A.;
Costigan, C.; Gosden, J. R.; Lawler, M.;
Humphries, P. :
- Further evidence consistent with Yqh
as an indicator of risk of gonadal blastoma in
Y-bearing mosaic Turner syndrome.
Clin. Genet. 41: 28-32, 1992.
PubMed ID : 1633643
- 12. Disteche, C.
M.; Casanova, M.; Saal, H.; Friedman, C.;
Sybert, V.; Graham, J.; Thuline, H.; Page, D.;
Fellous, M. :
- Small deletions of the short arm of
the Y chromosome in 46,XY females.
Proc. Nat. Acad. Sci. 83: 7841-7844,
1986.
PubMed ID : 3464001
- 13. Espiner, E. A.;
Veale, A. M.; Sands, V. E.; Fitzgerald, P. H.
:
- Familial syndrome of streak gonads
and normal male karyotype in five phenotypic
females. New Eng. J. Med. 283:
6-11, 1970.
PubMed ID : 5419329
- 14. Fine, G.;
Mellinger, R. C.; Canton, J. N. :
- Gonadoblastoma occurring in a
patient with familial gonadal
dysgenesis. Am. J. Clin. Path.
38: 615-629, 1962.
- 15. Frasier, S. D.;
Bashore, R. A.; Mosier, H. D. :
- Gonadoblastoma associated with pure
gonadal dysgenesis in monozygous twins.
J. Pediat. 64: 740-745, 1964.
- 16. German, J.;
Simpson, J. L.; Chaganti, R. S. K. :
- Genetically determined sex-reversal
in 46,XY humans. Science 202:
53-56, 1978.
PubMed ID : 567843
- 17. Ghosh, S. N.;
Shah, P. M.; Gharpure, H. M. :
- Absence of H-Y antigen in XY females
with dysgenetic gonads. Nature
276: 180-181, 1978.
PubMed ID : 740033
- 18. Harley, V. R.;
Jackson, D. I.; Hextall, P. J.; Hawkins, J. R.;
Berkovitz, G. D.; Sockanathan, S.; Lovell-Badge,
R.; Goodfellow, P. N. :
- DNA binding activity of recombinant
SRY from normal males and XY females.
Science 255: 453-456, 1992.
PubMed ID : 1734522
- 19. Herbst, E. W.;
Fredga, K.; Frank, F.; Winking, H.; Gropp, A.
:
- Cytological identification of two
X-chromosome types in the wood lemming (Myopus
schisticolor). Chromosoma 69:
185-191, 1978.
- 20. Jager, R. J.;
Anvret, M.; Hall, K.; Scherer, G. :
- A human XY female with a frame shift
mutation in the candidate testis-determining
gene SRY. Nature 348: 452-454,
1990.
PubMed ID : 2247151
- 21. Judd, H. L.;
Scully, R. E.; Atkins, L.; Neer, R. M.; Kliman,
B. :
- Pure gonadal dysgenesis with
progressive hirsutism: demonstration of
testosterone production by gonadal
streaks. New Eng. J. Med. 282:
881-885, 1970.
PubMed ID : 4314043
- 22. Koopman, P.;
Gubbay, J.; Vivian, N.; Goodfellow, P.;
Lovell-Badge, R. :
- Male development of chromosomally
female mice transgenic for Sry.
Nature 351: 117-121, 1991.
PubMed ID : 2030730
- 23. Koopman, P.;
Munsterberg, A.; Capel, B.; Vivian, N.;
Lovell-Badge, R. :
- Expression of a candidate
sex-determining gene during mouse testis
differentiation. Nature 348:
450-452, 1990.
PubMed ID : 2247150
- 24. Lukusa, T.;
Fryns, J. P.; van den Berghe, H. :
- Gonadoblastoma and Y chromosome
fluorescence. Clin. Genet. 29:
311-316, 1986.
PubMed ID : 3720008
- 25. Mann, J. R.;
Corkery, J. J.; Fisher, H. J. W.; Cameron, A.
H.; Mayerova, A.; Wolf, U.; Kennaugh, A. A.;
Woolley, V. :
- The X-linked recessive form of XY
gonadal dysgenesis with a high incidence of
gonadal germ cell tumours: clinical and genetic
studies. J. Med. Genet. 20:
264-270, 1983.
PubMed ID : 6620326
- 26. McElreavey, K.
D.; Vilain, E.; Boucekkine, C.; Vidaud, M.;
Jaubert, F.; Richaud, F.; Fellous, M. :
- XY sex reversal associated with a
nonsense mutation in SRY.
Genomics 13: 838-840, 1992.
PubMed ID : 1639410
- 27. Moreira-Filho,
C. A.; Toledo, S. P. A.; Bagnolli, V. R.;
Frota-Pessoa, O.; Bisi, H.; Wajntal, A. :
- H-Y antigen in Swyer syndrome and
the genetics of XY gonadal dysgenesis.
Hum. Genet. 53: 51-56, 1979.
PubMed ID : 535902
- 28. Muller, J.;
Schwartz, M.; Skakkebaek, N. E. :
- Analysis of the sex-determining
region of the Y chromosome (SRY) in sex reversed
patients: point-mutation in SRY causing
sex-reversion in a 46,XY female. J.
Clin. Endocr. Metab. 75: 331-333, 1992.
PubMed ID : 1619028
- 29. Nazareth, H. R.
S.; Moreira-Filho, C. A.; Cunha, A. J. B.;
Vieira-Filho, J. P. B.; Lengyel, A. M. J.; Lima,
M. C. :
- H-Y antigens in 46,XY pure
testicular dysgenesis. Am. J. Med.
Genet. 3: 149-154, 1979.
PubMed ID : 474628
- 30. Page, D. C.;
Mosher, R.; Simpson, E. M.; Fisher, E. M. C.;
Mardon, G.; Pollack, J.; McGillivray, B.; de la
Chapelle, A.; Brown, L. G. :
- The sex-determining region of the
human Y chromosome encodes a finger
protein. Cell 51: 1091-1104,
1987.
PubMed ID : 3690661
- 31. Passarge, E.;
Wolf, U. :
- Genetic heterogeneity of XY gonadal
dysgenesis (Swyer syndrome): H-Y
antigen-negative XY gonadal dysgenesis
associated with inflammatory bowel
disease. Am. J. Med. Genet. 8:
437-441, 1981.
PubMed ID : 7246614
- 32. Rose, L. I.;
Underwood, R. H.; Williams, G. H.; Pinkus, G. S.
:
- Pure gonadal dysgenesis: studies of
in vitro androgen metabolism. Am.
J. Med. 57: 957-961, 1974.
PubMed ID : 4473892
- 33. Rushton, D. I.
:
- XY gonadal dysgenesis.
(Letter) Lancet I: 209 only,
1979.
PubMed ID : 84224
- 34. Simpson, E.;
Chandler, P.; Goulmy, E.; Disteche, C. M.;
Ferguson-Smith, M. A.; Page, D. C. :
- Separation of the genetic loci for
the H-Y antigen and for testis determination on
human Y chromosome. Nature
326: 876-878, 1987.
PubMed ID : 3494951
- 35. Simpson, J. L.;
Blagowidow, N.; Martin, A. O. :
- XY gonadal dysgenesis: genetic
heterogeneity based upon clinical observations,
H-Y antigen status, and segregation
analysis. Hum. Genet. 58:
91-97, 1981.
PubMed ID : 7286997
- 36. Sinclair, A.
H.; Berta, P.; Palmer, M. S.; Hawkins, J. R.;
Griffiths, B. L.; Smith, M. J.; Foster, J. W.;
Frischauf, A.-M.; Lovell-Badge, R.; Goodfellow,
P. N. :
- A gene from the human
sex-determining region encodes a protein with
homology to a conserved DNA-binding
motif. Nature 346: 240-244,
1990.
PubMed ID : 1695712
- 37. Sternberg, W.
H.; Barclay, D. L.; Kloepfer, H. W. :
- Familial XY gonadal
dysgenesis. New Eng. J. Med.
278: 695-700, 1968.
PubMed ID : 4295620
- 38. Taylor, H.;
Barter, R. H.; Jacobson, C. B. :
- Neoplasms of dysgenetic
gonads. Am. J. Obstet. Gynec.
96: 816-823, 1966.
PubMed ID : 5951402
- 39. Vilain, E.;
McElreavey, K.; Jaubert, F.; Raymond, J.-P.;
Richaud, F.; Fellous, M. :
- Familial case with sequence variant
in the testis-determining region associated with
two sex phenotypes. Am. J. Hum.
Genet. 50: 1008-1011, 1992.
PubMed ID : 1570829
- 40. Wachtel, S. S.
:
- X-linked sex-reversing
genes. Cytogenet. Cell Genet.
80: 222-225, 1998.
PubMed ID : 9678362
- 41. Wachtel, S. S.
:
- The genetics of intersexuality:
clinical and theoretic perspectives.
Obstet. Gynec. 54: 671-685, 1979.
PubMed ID : 390460
- 42. Wachtel, S. S.;
Koo, G. C.; de la Chapelle, A.; Kallio, H.;
Heyman, J. M.; Miller, O. J. :
- H-Y antigen in 46,XY gonadal
dysgenesis. Hum. Genet. 54:
25-30, 1980.
PubMed ID : 7390478
- 43. Wolf, U. :
- XY gonadal dysgenesis and the H-Y
antigen. Hum. Genet. 47:
269-277, 1979.
PubMed ID : 110669
- 44. Wolf, U.;
Fraccaro, M.; Mayerova, A.; Hecht, T.;
Maraschio, P.; Hameister, H. :
- A gene controlling H-Y antigen on
the X chromosome: tentative assignment by
deletion mapping to Xp223. Hum.
Genet. 54: 149-154, 1980.
PubMed ID : 7390489
CLINICAL
SYNOPSIS
View
Clinical Synopsis Entry
CONTRIBUTORS
Victor A. McKusick - updated : 11/4/1998
CREATION DATE
Victor A. McKusick : 6/4/1986
EDIT HISTORY
carol : 11/12/1998
terry : 11/4/1998
carol : 6/23/1997
mark : 3/27/1997
mark : 6/11/1995
mimadm : 5/23/1995
terry : 11/21/1994
carol : 10/31/1994
carol : 10/20/1993
|
