Female Developmental Flashcards
(90 cards)
In females, the ______ ducts fuse to form the fallopian tubes, uterus, cervix, and ____.
paramesonephric
upper vagina
Incomplete ______ fusion of the paramesonephric ducts results in a bicornuate uterus characterized by an indentation in the center of the fundus.
lateral fusion
*bicornate (V shaped uterus)
When a patient has difficulty conceiving or recurrent pregnancy loss, structural uterine anomalies can be screened by ______, which involves contrast injection through the cervix into the uterus with a concurrent pelvic x-ray.
hystero-salpingo-gram (HSG)
Patient’s HSG shows 2 unfused uterine horns with a central filling defect, which can represent a _____ uterus or a ______
bicornuate (V shaped uterus)|
longitudinal uterine septum (1 uterus completely split into 2 by a muscular septum)
2 separate uterus & cervix with an associated ovary
Didelphys uterus
caused by incomplete degeneration of the central portion of the fibrous tissue band connecting the walls of the vagina.
Adolescent patients typically present with primary amenorrhea, normal secondary sexual characteristics, and cyclic abdominal or pelvic pain due to accumulation of menstrual blood in the vagina and uterus aka ___
Imperforate hymen
hematocolpos
Common manifestations of \_\_\_\_\_\_ include primary amenorrhea short stature high arched palate widely spaced nipples webbed neck
Turner syndrome (45,XO)
Primary amenorrhea occurs in Turner syndrome due to in utero degeneration of the _____ with replacement by fibrotic tissue.
ovarian follicles (gonadal dysgenesis)
*ovaries appear underdeveloped and atrophic (“streak gonads”)
____ manifests in the neonate with lymphedema, cystic hygromas (mass behind head), and or diminished femoral pulses (suggestive of ________)
Turner syndrome (45,XO)
coarctation of the aorta
Turner syndrome is characterized by a 45,X karyotype due to loss of ____
paternal chromosome X
Partial molar pregnancies have ___ or ____ karyotype as the result of fertilization of an ovum by ______
69,XXX
69,XXY
2 sperm
Partial moles typically contain:
fetal tissue
normal placental villi
intermixed with ____
hydropic villi
A complete mole has ____ and is composed entirely of
large, edematous, and disordered chorionic villi
appears grossly as ____ of vesicular structures.
no fetal structures
clusters of vesicular structures
“bunch of grapes”
Pelvic pain
vaginal bleeding
larger than expected uterus for gestational age
markedly β-hCG levels (trophoblastic hyperplasia)
Complete mole
Ultrasound demonstrates:
central heterogenous mass
multiple cystic areas
Complete mole
“Swiss cheese” or “snowstorm” pattern
Risk factors for molar pregnancies include prior molar pregnancy prior miscarriage \_\_\_\_\_\_\_ infertility.
extremes of maternal age
A complete mole most commonly results from the fertilization of an ovum that has _____ by one sperm (90% of cases).
no maternal chromosomes
(either due to absence or inactivation)
the haploid sperm replicates to form
(46 XX) purely paternal genome
*46,YY moles from duplication of 23Y sperm have not been observed, as a zygote without an X chromosome would not survive.
A complete mole can also form from the fertilization of an ovum that has no maternal chromosomes by \_\_\_\_\_ (10% of cases).
two sperm
(46 XX, 46 XY) purely paternal genome
In vitro fertilization using a donated ovum is the most promising means of achieving pregnancy in a woman with
Turner syndrome
Turner syndrome is a genetically heterogeneous condition that is most commonly due to ____ during gametogenesis.
meiotic nondisjunction
The loss of all or part of the X chromosome in Turner syndrome results in a missing ___ gene, which normally promotes long bone growth.
SHOX
______ results in a mixture of normal and mutated somatic cells, often leading to a milder form of the disease.
these patients are missing the X chromosome in only some of their cells 45,X/46,XX
Somatic mosaicism
2 karyotypes evident on analysis
Pt with ____ have no upper vagina (short vaginal canal/ blind pouch) and variable uterine development. These patients are 46,XX females with normal ovaries and secondary sexual characteristics.
Müllerian aplasia (complete agenesis of paramesonephric ducts)
Mayer-Rokitansky-Küster-Hauser syndrome
The lower vagina originates from the _______ and
The upper vagina originates from the _______
urogenital sinus
Mullerian ducts (paramesonephric)
