TEXTBOOK PEDIATRIC GYNECOLOGY - 2013

Chapter 7. DEVELOPMENTAL ANOMALIES OF THE REPRODUCTIVE ORGANS IN GIRLS. CLINICAL FEATURES, DIAGNOSIS, AND TREATMENT

Developmental anomalies of the external genitalia include congenital anatomical defects of the genitalia, or Congenital Malformations of the genitalia (CMG) resulting from incomplete Organogenesis. All variants of CMG are caused by one of three main factors: underdevelopment of the Müllerian ducts, failure of their recanalization, or incomplete fusion.

Agenesis — complete absence of an organ or its primordium.

Aplasia — absence of a part of an organ.

Atresia — underdevelopment that occurs secondarily As a result of an intrauterine inflammatory process.

Heterotopia — presence of Cells or Tissues in an organ where they are normally absent.

Hyperplasia — enlargement of an organ due to an increase in the number and volume of cells.

Hypoplasia — underdevelopment and imperfect formation of an organ.

Stenosis — narrowing of a canal or opening.

Ectopia — reduction in organ size or development of an organ in an atypical Location.

Clinical Classification of Congenital Malformations of the reproductive Organs

I. Imperforate hymen.

II. Malformations accompanied by complete retention of menstrual Blood.

A. With a functioning Uterus:

1. Imperforate hymen.

2. Post-hymenal septum.

3. Transverse vaginal septum.

4. Aplasia of part or the entire Vagina.

B. With a functioning hypoplastic uterus: aplasia of part or the entire vagina.

III. Malformations accompanied by unilateral retention of menstrual blood:

1. Accessory blind vagina.

2. Accessory non-communicating uterine horn.

IV. Malformations without retention of menstrual blood:

1. Complete and incomplete uterine septum.

2. Double uterus.

3. Unicornuate, bicornuate, saddle-shaped (arcuate) uterus, etc.

V. Rare forms of genital malformations:

1. Aplasia of a portion of the uterus.

2. Urogenital and intestinal developmental anomalies.

Types of gonadal anomalies:

1. Absolute agonadism.

2. Relative agonadism, or toxic dysgenesis (may resemble Turner syndrome).

3. Blastogenic hypergonadism (caused by tumor processes arising from undifferentiated embryonic tissue).

4. Pseudo-hypergonadism (includes ovarian overactivation due to fibro- and polycystic changes caused by Late gestosis, Post-term Pregnancy, or other somatic diseases).

5. True hypergonadism (develops as a result of duplication of the genital primordium).

6. True Hermaphroditism (simultaneous presence of ovarian and testicular tissue).

7. Female pseudohermaphroditism (characterized by a female karyotype, normal Internal Female Genitalia, and marked virilization driven by excess androgens).

8. Male pseudohermaphroditism (presence of a male karyotype and two Testes with varying degrees of impairment).

CONGENITAL MALFORMATIONS OF THE REPRODUCTIVE SYSTEM

The Development of the Reproductive System is a prolonged process that does not end in the Embryonic period, but continues after birth until the Organism reaches sexual maturity.

The formation of the reproductive tract during Embryogenesis is determined by the interaction of three groups of factors: genetic, internal epigenetic (enzyme systems, Hormones), and external, reflecting environmental influences.

METABOLISM/2.html">THE CONCEPT OF "sex" encompasses the following Structure/97.html">Definitions: genetic sex (the set of Chromosomes combined at Fertilization: XY for male and XX for female), Gonadal Sex (Testis or Ovary), hormonal sex (androgens, estrogens), somatic sex (body and genital structure), legal sex (assigned at birth), psychological sex (an individual's self-awareness of belonging to a particular sex), and social sex (an individual's perception by their environment).

The genetic sex of the unborn child is determined at the moment of egg and sperm fusion and depends on the sets of Sex Chromosomes and genes that dictate the type of Gonads, the activity level of enzyme systems, tissue reactivity to Sex Hormones, and their synthesis.