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Reproductive Embryology
19
Two periods in human life where the phenotypic
characteristics will differentiate:
INTRODUCTION o Embryonic period
The reproductive system of humans is composed o At onset of puberty
EMBRYONIC PERIOD
of 3 subsystems: gonadal system, internal
Primary sexual characteristic formation
genitalia system, and external genitalia system.
Formation of primary phenotypic sex of the embryo is
o Gonadal System testis (M) & ovaries (F) categorized into 3 diff structures
(gonads) o Gonad formation
o Internal genitalia system transit of o Internal genitalia formation
sperms cells (M: efferent ductules up to o External genitalia formation
ejaculatory duct & F: fallopian tube, uterus,
cervix of uterus, and upper 3rd of vagina) INDIFFERENT EARLIEST WEEK IT
o External genitalia system organ for STAGE CAN BE USED AS
copulation; usually used as organ in LONE CRITERIA FOR
identifying the sex of human species (not SEX DETERMINATION
the full criterion in identifying ones sex) Gonad 3rd-6th week 7th week
AOG
Ductal system 3rd-7th week 8th week
OVERVIEW AOG
MALE FEMALE Cloacal fold 3rd-11th week 12th week
Wolffian duct Male internal AOG
genitalia Table 1. Window period: Non-productive period wherein you
Mullerian duct Female internal cannot determine whether the gonad is male or female.
genitalia
Cloacal folds Penile shaft, Labia majora,
scrotal sac labia minora, Indifferent organs will become:
clitoris o Gonad: ovary / testis
o Ductal system: Mullerian / Wolffian duct
o Cloacal fold: participates in formation of penile
GENITAL SYSTEM shaft or clitoris (especially on the 11th week AOG;
TRIVIA: All are destined to become females by default.
at this point the clitoris is much longer than the
penile shaft)
For perpetration of human species & determination of sex
Interwoven with urinary system Key to sexual dimorphism is presence or absence of Y
o Major parts are derived and developed from a chromosome
common mesodermal ridge: intermediate o All DNA base pairs found in Yp11 = SRY gene
mesoderm (master gene for testes formation)
Two ways of how to determine sex of human species - Has a protein product: testes determining
o Genotypic sex factor, TDF -- gives instruction regarding
o Phenotypic sex what will happen to the gonad; converts
indifferent gonad to testis
GENOTYPIC SEX - Activates 3 genes (Ch9, Ch13q11-12, Ch17q)
o Presence/absence of Y chromosome will turn
- based on chromosomal configuration of the cell on/off the default mechanism that all are
44 autosome/somatic chromosome + X + Y sex destined to be females
chromosome/allosome = male o Acts in conjunction with SOX9 (sex determining
44 autosome/somatic chromosome + X + X sex region in chromosome Y homeobox 9) found in
chromosome/allosome = female Ch17q
o Downregulates/inhibit upregulation of ch1 gene
(WNT-4, wingless type 4 gene -- master gene for
PHENOTYPIC SEX ovary formation)
Male
o Start of sertoli and leydig cell formation
o Sertoli will synthesize MIS destruction and
degeneration of most parts of Mullerian duct
o Leydig cells will synthesize testosterone
o Absence of Y chromosome leads to loss of epithelial
masculinization/virilization of Wolffian duct internal
arrangement and formation into free mesenchymal cells
genitalia of male
that will degenerate and will be replaced by blood islands
Female
o Each blood island will house 1 PGC: marks the
o Since there is no leydig and sertoli cells, Wolffian duct will
start of formation of PGC to oogonium
continue to regress simultaneous to the degeneration of
o *in these case PGC is same as primordial egg cell
2nd kidney system
o Mullerian ducts will remain
CLINICAL CORRELATIONS
GARTNERS CYST
CLINICAL CORRELATION
- Biscrotal, diphallia
- Failure of the cloacal folds to fuse at the midline.
WANDERING SCROTUM
BIFID PENIS
- Diphallia
MICROORCHIDISM PHIMOSIS
TURNER SYNDROME
- 45 X
- characterized by: High hair line in front, low hair line at the
back; poor visual acuity; downslanting of eyelids; citicorina
(birds beak nose); low set of ears; problem with dentition with
high arched palate (hot potato voice type); shield like chest
with wide set breast and inversion of nipple; equal hip-waist
ratio; lymph edema at dorsum of feet and hand; genu valgum
UTERUS DIDELPHYS
(knock knee) and cubitus valgus; webbing of the neck
- Two vaginal canals - Causative factor: one x is missing
- Hallmark: gonadal dysgenesis absence of oocytes
- Rudimentary ovaries
o Amenorrhea
o Reproductive sterility
- Behavior:
o Cognition: math, social skills, spatial memory, speech
impairments
o Concentration: ADHD
- Usual complaint: absence of menarche, pubarche
- Incidental findings: Horseshoe kidney, coarctation of thoracic
aorta (narrow), short 4th metacarpal
Chromosomal abnormalities
FEMALE PSEUDOHERMAPHRODISM
KLINEFELTER SYNDROME - 46 XX female
- Masculine physique, ambiguous genitalia
- 47 XXY man: aneuploidy
- Two types:
REFERENCES:
1. Lecture Notes
2. Recordings
3. Past trans
CLINICAL CORRELATION
HYDROCELE
MICROPENIS
ITEM MONITORED & USUAL LOCATION OF Primordial Germ Cells (PG Cells) In weeks
AOG
A In the most caudal part of the yolk sac near the allantois A. 3rd
B PGCells migrate via amoeboid movement form allantois, cloaca, B. 4th
hindgut dorsal mesentery of hindgut
C Hilum of indifferent gonad C. 5th
D Penetrates the mesenchyme/parenchyma of the indifferent gonad D. 6th
E Gonad start to differentiate into either ovary or testis through E. 7th
PGCells secreted hormone