Abnormal development of female genitals organs and tissues and organs

1. Abnormal
development of
female genitals organs
Parul katiyar
531A

2. Introduction
Abnormal development of female genital organs, also known
as disorders of sexual development (DSD) or intersex
conditions, refers to a group of congenital conditions where
the development of the female reproductive organs is
atypical. These conditions can vary widely in severity and
presentation, and they may be associated with physical,
hormonal, and/or chromosomal abnormalities

3. Causes
Genetic abnormalities: Such as mutations or variations in genes
involved in sexual development, such as SRY gene mutations in
individuals with 46,XX chromosomes.
Hormonal imbalances: Disruptions in the production or action of
hormones like testosterone and estrogen during fetal development
can lead to abnormal genital development.
Environmental factors: Exposure to certain medications, toxins, or
maternal conditions during pregnancy can interfere with fetal
development and contribute to DSD.

4. Types and classification:
There are numerous types of DSD, and they can be classified based on
various criteria, including:
Chromosomal DSD: Involving abnormalities in sex chromosomes, such as
Turner syndrome (45,X), Klinefelter syndrome (47,XXY), and Androgen
Insensitivity Syndrome (46,XY).
Gonadal DSD: Involving abnormalities in the development of the gonads
(ovaries or testes), such as gonadal dysgenesis or ovotesticular DSD.
Phenotypic DSD: Involving atypical external genitalia, such as ambiguous
genitalia or clitoromegaly.

5. Millen has classified the mechanisms of anomaly production as
follows:
Developmental arrest—cessation of development before
completion
Agenesis or aplasia—failure of normal development
Hyperplasia or local overgrowth
Aberrant development
Failure of normal resorption (either too much or too little) or
resorption in the wrong locations
Secondary degeneration of normally developed structures

6. Etiology
The exact cause of DSD can vary depending on the specific
condition, but it often involves complex interactions between
genetic, hormonal, and environmental factors during fetal
development.

7. Mechanism
● The mechanisms underlying DSD can involve disruptions
in the normal processes of sexual differentiation,
including gonadal development, hormone production and
action, and genital differentiation.

8. UTERINE ANOMALIES
The most frequent uterine anomalies are those
resulting from varying degrees of failure of fusion of
the müllerian ducts. This variability makes
classification difficult and determination of the true
incidence uncertain. Many of these malformations
are detected by radiologic or sonographic studies.

9. Uterus duplex, or the bicornuate uterus, is the most frequent
uterine anomaly. The unicollis type in which there is a single
cervix with a septum that does not reach the cervix is the
most frequent type, occurring in over one third of all patients
with uterine anomalies.

10. Uterus duplex bicollis, in which two cervices are present, is
less frequent. Obstetric complications are frequent, but live
births do occur.

11. Uterus didelphys, with completely separate uterine cavities, is
also frequent. The cervices are externally united and the
uterine fundi are externally separate. In most patients the
vagina is septate, causing a double vagina. The halves of such a
uterus are often of different sizes. If there is an asymmetric
vaginal septum which occludes one vagina, mucocolpos or
hematocolpos may result. Communicating uteri, involving an
incomplete uterine septum with part of the fetus in each
uterine cavity, occasionally occur.

12. Uterus septus is an essentially normal uterus with a septum
reaching to the cervix.
Uterus subseptus involves a partial septum that does not
reach the cervix. Twins apparently occur approximately three
times more often in women with this condition than in women
with normal uteri; the cause is not clear.

13. Uterus arcuatus is a normal uterus without a septum. The
fundus, however, is notched or flattened. There is usually no
interference with normal pregnancy.
Uterus unicornis is a uterus with a single horn. A normal
vagina and a single normal tube are usually present. The other
half of the uterus is usually absent or rudimentary. In most
patients the kidney is missing on the side of the missing
uterus. Successful pregnancy can occur.

14. Diagnostic method
Diagnosis of DSD typically involves a combination of clinical
evaluation, hormone testing, imaging studies (such as
ultrasound or MRI), and genetic testing (including karyotype
analysis and molecular genetic testing).

15. Treatments
Treatment of DSD depends on the specific condition and may
include:
Hormone therapy: To promote secondary sexual characteristics
and reproductive function.
Surgery: To correct ambiguous genitalia, remove gonadal tumors,
or reconstruct the genitalia for functional or cosmetic purposes.
Psychological support: For individuals and families coping with the
emotional and psychological aspects of DSD.

16. Complication
Complications:
Complications of DSD can vary depending on the specific
condition and may include infertility, psycho-social issues
related to gender identity and body image, and increased risk
of certain health conditions such as gonadal tumors. Regular
monitoring and multidisciplinary care are often necessary to
address these potential complications effectively.