Materi determinasi seks

tambahan
RETNO DWI W.
2007

True hermaphroditism

Internal genital development:

Wolffian: on the side that has a testis or mostly testicular tissue, you
might get parts of the sperm transport system (such as
epididymis or vas deferens, etc.). On the side that has an ovary
or mostly ovarian tissue you might get apoptosis of the
wolffian duct.
Mullerian: on the side that has a testis or mostly testicular tissue,
you might get apoptosis and thus NO mullerian derivatives. On
the side that has an ovary or mostly ovarian tissue you might
not get MIS and thus the duct becomes am oviduct,
deformed uterus, and upper vagina.
External genital development:
Depending on the amount of testosterone that reaches the external
genital rudiments, you will either get a normal female vulva (virtually
no testosterone reaching this region) or more likely an ambiguous
external genitalia consisting of penis and split or bifid scrotum with a
vaginal opening between the two parts of the open scrotum.

5-alpha reductase deficiency [also known as

pseudovaginal perineoscrotal hypospadias syndrome or
PPHS] This is a male pseudohermaphrodite

In this condition the individuals are 46,XY.

They have a gene mutation that does not
permit the conversion of testosterone to
dihydrotestosterone in target tissue. Their
testes produce normal amounts of MIS
and testosterone which otherwise function
normally.
Gonads: testes

Internal genitalia; MIS is OK and testosterone is

OK so
Wolffian ducts form sperm transport system
Mullerian ducts undergo apoptosis
External genitalia form what looks like a vulva
but not quite right
Genital tubercle is a clitoris
Genital folds form labia minora-like structures
Genital swellings form labia majora like
structures.

Additional features: If raised as a female (despite the

absence of a vagina) these individuals at puberty will
respond to testosterone and grow a beard, deepen the
voice, and become muscular. There may a slight
enlargement of the clitoris. If detected early the testes
can be removed (they are internal) to prevent possible
gonadoblastoma and thus the pubertal changes will not
go in a male direction. To have intercourse these
individuals would need surgery to construct a vagina
passage. The lower vagina is either absent or very short.

Kasus DEFISIENSI 5 ALPHA REDUCTASE

Seorang wanita menjalani pemeriksaan USG rutin
pada kehamilan anak ke dua pada usia kehamilan
12, 20 dan 34 minggu.
Anak pertamanya lahir dengan hypospadia.
Kemudian wanita ini menikah lagi dengan
sepupunya dan mengalami keguguran. Tidak ada
kelainan kongenital dalam keluarganya. Hasil
pemeriksaan USG menunjukkan pertumbuhan
dan morfologi bayi normal.
Jenis kelamin bayi adalah wanita. Tetapi hasil USG
pada genitalia eksterna menunjukkan pembesaran
labia majora, tidak terlihat adanya labia minora,
clitoris, penis maupun testis.

Bayi lahir di usia kehamilan 40

minggu, fenotip wanita normal
dan tidak ada pembesaran
clitoris, tetapi dokter mendeteksi
adanya 2 gonad di canalis
inquinalis
Hasil analisa kromosom
menunjukkan karyotype bayi 46,
XY.

Fenotip bayi tidak membingungkan (ambigua),

dan pemeriksaan menunjukkan tingginya ratio
testosteron terhadap DHT, evaluasi USG
menunjukkan tidak ada uterus, ovarium,
tetapi ada vaginal pouch, maka Dx adalah :
defisiensi 5-alpha reductase yang
menyebabkan male pseudohermaphroditism.

Bayi ini homozigot dan ke dua orang tuanya

heterozigot.

Meskipun staff medis telah memberikan penjelasan

adanya virilisasi pada anak-anak dengan kelainan
semacam ini setelah puber, dan adanya
kemungkinan imprinting of fetal androgen on fetal
brain yang akan memberikan identifikasi seksual
pria, orang tua bayi tsb memutuskan untuk
membesarkan
anaknya
sebagai
perempuan,
dengan berbagai alasan antara lain keinginan
untuk memiliki anak perempuan, tidak ada
ambiguitas seksual saat lahir dan phallus yg tidak
berkembang (panjang 1 cm) setelah usia 3 tahun dan ketika usia 3,5 tahun, akan dilakukan operasi
pengambilan gonad.

Congenital insensitivity to androgen syndrome or CIAS

[formerly called testicular feminization] This is a male
pseudohermaphrodite

In this condition a gene on the X is

involved in forming receptors to
testosterone. These are absent in most or
all of the target tissue when that gene is
mutated. They are of karyotype 46,XY and
should not be confused with 46,XY sex
reversal which has a different mechanism
and outcome. In CIAS the SRY gene
function is normal and testes form and
produce both testosterone and MIS.
Gonads: testes

Internal genitalia: no receptors to testosterone and thus it

acts as if no testosterone is present; MIS function is
perfectly OK.
Wolffian ducts may not respond to testosterone if
receptors are absent and thus no sperm transport
system
Mullerian ducts: will undergo apoptosis in presence of
MIS

External genitalia: no receptors to testosterone so its as

if there were no testosterone present, hence.
Genital tubercle forms clitoris; genital folds form labia
minora; and genital swellings form labia majora.

Additional features: These are female at birth and look

like baby infant girls; they are raised as females and
respond to life as females. They lack a uterus, oviducts,
and upper vagina hence their lower vagina (urethal in
origin) is short and surgical correction may be needed for
normal sexual intercourse. They develop normal sized
breasts at puberty but do not develop public or axillary
hair. They lack a menarche, of course, because they
have testes, not ovaries. The internal testes are removed
once the condition is diagnosed because internal testes
lead to gonadoblastoma a potentially lethal cancer.
These females have normal male levels of testosterone.
They cannot become mothers by IVF because they lack
a uterus.

XY female

In XY humans, mutations of SRY cause male-to-female sex reversal. Sex

reversal in XY females results from the failure of the indifferent gonad to
develop into a testis.
At birth, the patients with this type of gonadal dysgenesis appear to be
normal females; however, they do not develop secondary sexual
characteristics at puberty, have amenorrhea and streak gonads. Phenotypic
abnormalities in these patients could be diverse and heterogeneous
depending on the precise moment of testicular degeneration and if both
testicular compartments are totally or partially affected. Thus, the phenotype
of an individual with an SRY mutation is either XY-female or normal fertile
male. Intersex individuals do not have SRY mutations.
Mutations in the SRY gene have been found to account for approximately
15% of cases with male to female sex reversal. To date, about 46 mutations
have been identified within the open reading frame of the SRY gene.6
Primarily, these mutations are within the HMG box, thus highlighting the
critical role of this domain, and only 10 mutations outside the HMG box
have been reported so far to the best of our knowledge
http://www.nature.com/ejhg/journal/v15/n1/full/5201719a.html