EMBRYOLOGY FINALS 1 March 7, 2012

GENITAL SYSTEM OF THE EMBRYO

Consists of: Gonads of primitive sex organs Genital ducts External genitalia All of these go through an indifferent stage in which they may develop to either a male or female. Genetic sex of embryo is established at fertilization but influence of chromosome complement of the primordial rd germ cell, which appears on 3 wk of development, will push the indifferent gonads either to male or female direction:

Errors in production or sensitivity of hormones will lead to a predominance of female characteristics which are under the influence of maternal and placental estrogen.

Androgenital Syndrome female disorder that

leads to excessive production of androgens Enlargement of clitoris Partial fusion of labia majora

- Female pseudohermaphrodite CONGENITAL ANOMALIES OF UG SYSTEM Congenital Polycystic Kidneys

numerous cyst form Insufficient active renal tissue remains Etiologic theories: o o

Y chromosome testes determining

chromosome o Causes development of medullary (testis) cords and formation of tunica albuginea o Also causes failure of cortical (ovarian) cords to develop

Non-union theory collecting and

excretory tubules in kidney fail to join Abnormal formation or function in the proximal convoluted tubules lead to degenerative changes producing multiple cysts

XX chromosome stimulate formation of

ovary

Renal Agenesis bilateral or unilateral

Due to early degeneration of ureteric body

When the primordial germ cell fail to reach the indifferent gonad, the gonad remains indifferent or absent. The indifferent duct system and the external genitalia will develop under the influence of the hormones:

Double or Ectopic Ureter due to early splitting of

ureteric body complete or partial duplication of ureter

Testosterone produced by Leydig cells

(testes) o Will stimulate the development of mesonephric duct which will become the: - vas deferens - epididymis

Pelvic Kidney one kidney fail to ascend it remains to

the pelvis close to the common iliac artery

Horseshoe Kidney kidneys are pushed so close

together that the lower poles fuse

Mullerian Inhibiting Substance

produced by Sertoli cells o suppress paramesonephric duct, which is the female duct system

Urachal Fistula when lumen of intraembryonic portion

of allantois persist urine may drain from umbilicus

Dihydrotestosterone stimulate
development of prostate, external genitalia, penis and scrotum

Urachal Cyst only a localized portion of allantois persist

secretory activity of this lining results to a cystic dilatation

Estrogen influence development of

paramesonephric female system; include development of: o Uterus o Uterine tube o Upper portion of vagina Also stimulate external genitalia including: o Clitoris o Labia o Lower portion of vagina

Urachal Sinus when upper portion persists

usually continues with the urinary bladder

Duplication and Atresia of Uterine Canal

from lack of fusion of paramesonephric ducts in a localized area or even throughout the length of the duct

Uterus Didelphys uterus entirely doubled Uterus Arcuatus uterus slightly indented in the
middle

DEFECTS IN SEX DIFFERENTIATION

Klinefelters Syndrome karyotype of 47
chromosomes with a sex chromatin of XXY or other variants like XXXY Caused by defect which results from a nondisjunction during spermatogenesis or oogenesis Characterized by: o Infertility o Gynecomastia o Varying degree of impaired sexual maturation o Underandrogenization in some cases

Uterus Bicornis uterus with 2 horns entering common

vagina

Uterus Bicornis Unicollis

uterus duct on both sides

rudimentary horn in the

Atresia of the Cervix atresia of paramesonephric Atresia of the Vagina sinovaginal bulbs do not
develop

Double Vagina sinovaginal bulb fails to fuse

Gonadal dysgenesis or Turner Syndrome

patients with 44 autosomes and one X chromosome Since Y chromosome is absent, placental and maternal estrogen will influence development of mesonephric duct external genitalia like in normal female But gonads do not produce hormone after birth differentiation of the paramesonephric duct and external genitalia ceases Sex characteristics will remain infantile

Pure gonadal dysgenesis no abnormality on Hypospadias fusion of urethral folds is incomplete

abnormal opening of urethra found along inferior aspect of penis most frequently the abnormal orifices are near the glans penis, but can be along the shaft and even near the base of penis chromosomes Primordial germ cell do not form or do not migrate to the gonadal area neither the ovary or testes will develop

Testicular Feminization Syndrome patients

have 44 autosome with XY complement but have appearance of normal female Tissues of external genitalia are unresponsive to the androgens produced by testes and develop as if in a normal female influenced by estrogen Since patients have testes, the paramesonephric system is suppressed and the uterine tubes and uterus are absent Vagina is short and ends blindly Testes is present and is frequently found in the inguinal canal or in the labial regions No spermatogenesis Increased risk of tumor formation in these structures in the testes

Epispadias abnormal urethral opening at dorsum of

penis Instead of developing at the cranial margin of the cloacal membrane, the genital tubercle seems to form in the region of the urorectal septum.

Bifid Penis or Double Penis two sides of the

genital tubercle do not fuse

Ectopia or Exstrophy of the Bladder

posterior wall of bladder is exposed to outside
Normally the abdominal wall in front of the bladder is formed by primitive streak mesoderm, which migrates around the cloacal membrane. When this migration does not occur, rupture of the cloacal membrane extends cranially, creating exstrophy of the bladder

Pseudohermaphroditism or intersexuality
genotypic sex is masked by phenotypic appearance that closely resembles other sex If (+) testes = male pseudohermaphrodite If (+) ovary = female psuedohermaphrodite

Female Pseudohermaphrodite common cause is adrenogenital syndrome wherein the patient has
44 chromosomes plus XX complement Nuclei is chromatin positive and there are ovaries but the excessive production of androgen by adrenals causes excessive external genitalia to develop into a male direction Musculinization may vary from just an enlarged clitoris to almost male genitalia Frequently there is a clitorial hypertrophy and partial fusion of labia majora giving the appearance of scrotum There is small persistent urogenital sinus Syndrome is caused by abnormal steroid metabolism in fetal adrenal cortex

HEAD AND NECK

Pharyngeal Arches called Branchial arches in
the embryo Consists of bars of mesenchymal tissues that are separated from each other by pharyngeal pouches and clefts give the head and neck their typical appearance in the embryo Each of these pharyngeal arches contain its own o Artery o Nerves o muscle elements o cartilages and skeletal elements. Postnatally, the appearance of the teeth and paranasal sinuses will provide the face with their own personal characteristics.

Male Pseudohermaphrodite patients have 44

chromosome plus XY complement Cells are usually chromatin negative Androgenic hormones are produced in insufficient amount as they are formed after the tissue sensitivity of sexual structures already passed Internal and external sex characteristics may vary considerably depending on the degree of development of external genitalia and presence of paramesonephric derivatives

Endoderm of the pharyngeal pouches

Congenital Inguinal Hernia The connection

between the abdominal cavity and the processus vaginalis in the scrotal sac normally closes in the first year after birth. If this passageway remains open, intestinal loops may descend into the scrotum. Sometimes the obliteration of this passageway is irregular, leaving only small cyst along its course but later this cyst may secrete excessive fluid and may result to formation of hydrocele

gives rise to a endocrine glands and some parts of middle ear. In subsequent order, the pouches give rise to: 1. middle ear cavity 2. auditory tube 3. stroma of the palatine tonsil 4. parathyroid glands 5. thymus 6. ultimobranchial bodies

Pharyngeal clefts give rise to external auditory meatus.

The thyroid gland originates from an epithelial proliferation in the floor of the tongue and descends to its level in front of the tracheal rings in the course of development. The complicated development of the face from pharyngeal arches is the reason why there are many cases of craniofacial abnormalities. Similarly, abnormalities in these structures are also in the neck, and may lead to development of abnormal lateral or midline cysts in the neck. Common examples: congenital branchial cyst fistulas thyroglossal duct sinuses and cysts

Cyptorchidism or undescended testes at

birth, testes are present in scrotum. In certain cases, one or both testes may remain in the pelvic cavity or inguinal canal, and can persist until puberty and descend; or may remain indefinitely in abnormal position Due to abnormal androgen production: cannot produce or abnormal androgen Unable to produce mature spermatozoa due to high temperature in inguinal canal or abdominal cavity Descent of the gonads is considerably less in the female than in the male, and the ovaries finally settle just below the rim of the true pelvis. The cranial genital ligament forms the

Maxillary, manibular and fronto-nasal prominences in the facial region through their fusion
and special growth, determine the size of the mandible size of upper lip size of palate and nose

suspensory ligament

of the ovary, whereas the

caudal genital ligament forms the

ovary proper and the uterus. The latter extends into the labia majora.

ligament of the round ligament of the

Though there is hypoplasia of the mandible, the formation of

2 maxillary prominences and 2 medial prominences is at most importance since the development of cleft lip is a
the upper lip by the fusion of the very serious morphological and psychological handicap. In deeper portion of the face, the fusion of the maxillary prominences will give rise to: hard and soft palate derivatives of intermaxillary segment (like filtrum) upper jaw component carries upper teeth palatal component forms the triangular primary palate a series of cleft deformities will result from incomplete or partial fusion of these mesenchyamal tissues, which may be caused by hereditary or environmental factors. The final adult form of the face is greatly contributed by the development of: Paranasal sinuses Nasal concha Teeth develops from an ectodermal and

Associated with malformations of the mouth: shortened filtrum or fist mouth, very small mouth, nasal cleft and cardiac abnormalities.

Ankyloglossia (tongue-tied) tongue is not

free from floor of the mouth The frenulum extends to the tip of tongue

Thyroglossal cyst
Where in the cyst may be found at any point along the migratory path that is followed along the thyroid gland Always located close to or in the midline of neck Cystic remnant of thyroglossal duct 15% of cysts are located close to or just inferior to hyoid bone Sometimes, cyst is connected to the outside by fistula or fistulus cannal which is called

thyroglossal fistula

Aberrant thyroid tissue

May be found anywhere along path of descend of thyroid gland Commonly found at the base of tongue, just behind the foramen cecum subject to some diseases like the thyroid gland itself

mesodermal component
The enamel is made up of ameroblast. It lies into a thick layer of dentin produced by

odontoblast or neural crests. Lateral cyst of the neck called branchial cyst
Congenitally it happens when the 2 pharyngeal rd th arch fails to grow caudally over the 3 and 4 arches nd rd th The remnants of 2 , 3 , 4 cleft will remain in contact with the surface by a narrow canal, which we call the branchial fistula
nd

DIFFERENT FIRST ARCH SYNDROMES Treacher Collins Syndrome

known as Mandibulofacial Dysostosis Due to autosomal dominant gene Consist of the ff abnormalities: o Abnormal external ear o Abnormalities in inner and middle ear o Hypoplasia of molar region and mandible o Defect in lower eyelids

Pierre Robin Syndrome

hypoplasia mandible There is cleft palate and a defect in ear and eye

of

DiGeorge Syndrome characterized by absence of thymus gland and parathyroid gland