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GIGU Exam 2 > Phyiso Clinical Notes > Flashcards

Phyiso Clinical Notes Flashcards

1
Q

Ectopic Implantation

A
  • Implantation somewhere other than the uterine fundus
  • Most common site is oviduct (tubal pregnancy) which results in no decidualization and uncontrolled invasion (can rupture the tissues and cause hemorrhage)
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2
Q

What are the Sex-Chromosome Disorders?

A
  • Turner Syndrome (45 X)
  • Klinefelter Syndrome (47 XXY)
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3
Q

Turner Syndrome

A
  • 45 X
  • Monosomy X – egg or sperm randomly forming without an X chromosome
  • Features: wide or weblike neck, low-set ears, delayed/slow growth, short stature, cardiac defects
  • Ovarian insufficiency/failure
  • Amenorrhea (Primary or Secondary)
  • Infertility
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4
Q

Mosaic Turner Syndrome

A
  • X chromosome absent in portion of the cells
  • Also called 45 X mosaicism
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5
Q

Inherited Turner Syndrome

A
  • Extremely rare
  • Happens because of a missing part of the X chromosome
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6
Q

Klinefelter Syndrome (Seminiferous Tubular Dysgenesis)

A
  • 47 XXY
  • Can be complete or mosaic
  • Typically X inactivation occurs
  • Phenotypically male due to presence of Y chromosome; appearance of male at birth
  • At puberty, increased levels of gonadotropins fail to induce normal testicular growth and spermatogenesis
  • Typically see low levels of androgens and elevated levels of gonadotropins
  • Features: hypogonadism (low production of androgens), gynecomastia (overdevelopment of breast tissue in males), tall stature, typically infertile (due to destruction of seminiferous tubules)
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7
Q

What are Gonadal Dysgenesis Disorders?

A
  • Ovotesticular DSD
  • XX Testicular DSD
  • XY Gonadal Dysgenesis
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8
Q

Ovotesticular DSD

A
  • Characterized by the presence of both ovarian and testicular tissue in the same individual – ovotesties present in 2/3 of affected individuals
  • Results from altered sex determination where both the medulla and cortex of the indifferent gonads develop
  • Phenotype may be male or female but the external genitalia are ambiguous
  • Majority of karyotypes are 46 XX; 20% have 46 XX / 46 XY mosaicism; 10% have 46 XY with mutations in SRY or related genes
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9
Q

XX Testicular DSD

A
  • 46 XX
  • Chromatin-positive nuclei
  • Occurs when SRY gene is translocated to an X chromosome
  • Ovaries present
  • Male appearance of external genitalia but some individuals may have ambiguous external genitalia
  • Testes are often small
  • Individual may have hypospadias
  • Features: gynecomastia, infertility due to azoospermia
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10
Q

XY Gonadal Dysgenesis

A
  • 46 XY
  • Inadequate production of testosterone and AMH by the fetal testes
  • External and Internal Genitalia are developmentally variable due to varying degrees of development of the paramesonephric ducts
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11
Q

Complete XY Gonadal Dysgenesis

A
  • Individuals have internal and external structures that appear female and underdeveloped (streak) gonads
  • Do not develop secondary sexual characteristics at puberty
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12
Q

Virilizing Congenital Adrenal Hyperplasia (CAH)

A
  • Comprises a group of autosomal recessive disorders caused by deficient adrenal corticosteroids biosynthesis – majority is due to deficiency in 21-hydroxylase
  • Results in reduced negative feedback inhibition of cortisol (gluccocorticoid), and alteration in adrenal mineralcorticoid and androgen secretion
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13
Q

21-Hydroxylase Deficiency CAH

A
  • Typically occurs in XX
  • Defective conversion of 17OHP to 11-deoxycortisol
  • Results in reduced cortisol biosynthesis, reduced negative feedback, increased ACTH secretion, and adrenal androgens are produced in excess
  • Enhanced ACTH drive to adrenal androgen secretion in utero leads to virilization of affected female
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14
Q

Features of 21-Hydroxylase Deficiency CAH in Females

A

Masculinization of external genitalia
- Clitoral hypertrophy
- Partial fusion of the Labia Majora
- Persistent urogenital sinus
- In rare cases, complete clitoral urethra results

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15
Q

Adrenogenital Syndrome

A
  • Type of 21-Hydroxylase Deficiency CAH
  • Correlated with enzymatic deficiencies of cortisol biosynthesis
  • In some male infants the first presentation may be related to insufficient aldosterone production, leading to a salt-wasting state that clinically presents as shock from dehydration
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16
Q

Androgen Insensitivity Syndrome

A
  • 46 XY chromosome
  • Results form point mutations in the sequence that codes for the androgen receptor
  • Follows X-linked recessive inheritance
  • At puberty there is normal development of the breasts and female characteristics
  • Menstruation does not occur
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17
Q

Androgen Insensitivity Syndrome: External Genitalia

A
  • Female
  • Vagina usually ends in blind pouch
  • Uterus and Uterine Tubes are absent or rudimentary
  • Testes are usually in the abdomen, inguinal canals, or labia majora
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18
Q

Presentation of Androgen Insensitivity Syndrome at Birth

A

Exhibit some masculinization at birth
- Ambiguous external genitalia
- Enlarged clitoris
- Blind vaginal pouch
- Absence of uterus
- Testes are in inguinal canals or labia majora

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19
Q

5-Alpha Reductase Deficiency

A
  • 46 XY
  • Inability to produce DHT (can’t convert Testosterone into Dihydrotestosterone)
  • Normal testes and vas deferens development
  • External genitalia appear female or ambiguous (DHT critical for male external genitalia development)
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20
Q

Hypospadias

A
  • External Urethral Orifice is malpositioned, usually penis is underdeveloped and curved ventrally (chordee)
  • Caused by failure of canalization of ectodermal cord (glans penis) and/or failure of fusion of the urethral folds –> incomplete formation of spongy urethra
  • Likely due to inadequate production of androgens from fetal testes and/or inadequate receptor sites for androgen hormones
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21
Q

Hypospadias: Epispadias

A
  • Urethra opens on dorsal surface of the penis, complex with exstrophy of the bladder
  • Rare to present as its own malformation
  • Results from inadequate ectodermal-mesenchymal interactions during development of the genital tubercle
  • Develops more dorsally and when the urogenital membrane ruptures, the urogenital sinus opens on the dorsal surface of the penis
  • Urine is expelled at the root of the malformed penis, which is located in the superficial perineal pouch
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22
Q

Glanular Hypospadias

A

External urethral orifice is located on the ventral surface of the glans penis

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23
Q

Penile Hypospadias

A

External urethral orifice is located on the ventral surface of body of penis

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24
Q

Penoscrotal Hypospadias

A

External urethral orifice is located at the junction of the penis and scrotum

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25
Q

Perineal Hypospadias

A
  • Labioscrotal folds (swellings) fail to fuse (most severe), and external urethral orifice is located between the unfused halves of the scrotum
  • External genitalia are ambiguous
  • Persons with perineal hypospadias and crytorchidism may be misdiagnosed with a XY Gonadal Dysgenesis
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26
Q

Ageneis of External Genitalia

A
  • Congenital absence of the penis or clitoris (extremely rare)
  • Caused by failure of the genital tubercle to develop, urethra usually opens into the perineum near the anus
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27
Q

Bifid Penis

A
  • Usually associated with exstrophy of the bladder and may be associated with urinary tract abnormalities and imperforate anus
  • Only one corpus cavernosum present in each penis
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28
Q

Diphallia (Double Penis)

A
  • Results when two genital tubercles develop
  • Each penis has two corpus cavernosum
  • Fewer than 100 cases have been reported worldwide
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29
Q

Micropenis

A
  • Results from fetal testicular failure
  • Commonly associated with hypopituitarism (diminished activity of the anterior lobe of the hypophysis)
  • Penis is nearly hidden by suprapubic fat pad
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30
Q

What is the most common Disorder of Sex Development (DSD)?

A

Glanular Hypospadias

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31
Q

Uterine Duplications & Vaginal Anomalies

A

Result from arrests of development of the uterovaginal primordium during 8th week
- Incomplete development of a paramesonephric duct or failure of parts of one or both paramesonephric ducts to develop
- Incomplete fusion of the paramesonephric ducts
- Incomplete canalization of the vaginal plate to form the vagina

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32
Q

Examples of Uterine & Uterine Tube Anomalies

A
  • Double Uterus (Uterus Didelphys) with two cervixes
  • Bicornuate with two Uterine Horms
  • Bicornuate with rudimentary horns
  • Septate Uterus
  • Unicornuate Uterus with one Lateral Horn
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33
Q

Uterine Tube Anomalies

A
  • Rare
  • Include hydatid cysts, accessory ostia, complete and segmental absence of the tubes, duplication of a uterine tube, lack of muscular layer, and failure of the tube to canalize
34
Q

Double Uterus (Uterus Didelphys)

A
  • Failure of fusion of the inferior parts of the paramesonephric ducts
  • May be associated with double or single vagina
  • May appear normal externally but is divided internally by a thin septum
35
Q

Bicornuate Uterus

A
  • Duplication involving the superior part of the body of the uterus
  • If growth of one paramesonephric duct is delayed and the duct does not fuse with its pair, a bicornuate uterus with a rudimentary horn (cornu) develops (may not communicate with uterine cavity)
36
Q

Unicornuate Uterus

A

Develops when one paramesonephric duct fails to develop resulting in a uterus with one uterine tube

37
Q

Absence of Vagina & Uterus

A
  • Results from failure of the sinovaginal bulbs to develop and form the vaginal plate
  • Uterus is typically absent because the uterovaginal primordium induces the formation of sinovaginal bulbs
38
Q

Vaginal Atresia

A

Results from failure of canalization of the vaginal plate

39
Q

Transverse Vaginal Septum

A

Presence of septum at the junction of the middle-superior thirds of the vagina

40
Q

Imperforate Hymen

A

Results from failure of the inferior end of the vaginal plate to perforate

41
Q

What is the most common obstructive anomaly?

A

Imperforate Hymen

42
Q

Cryptorchidism (Hidden Testes)

A
  • Most common anomaly in neonates
  • Can be unilateral or bilateral
  • Typically located in inguinal canal but can occur anywhere along the usual pathway of descent
  • Cause is unknown but androgen deficiency likely an important factor
  • If both testes remain within or outside the abdominal cavity they fail to mature resulting in sterility
  • If uncorrected it can lead to a significantly higher risk of developing germ cell tumors
43
Q

Ectopic Testes

A
  • Occurs when part of the gubernaculum passes to an atypical location and testis follows it
  • Rare
  • Interstitial ectopia occurs most frequently (testis located external to the aponeurosis of external oblique muscle)
44
Q

Locations of Ectopic Testes

A
  • Interstitial
  • Proximal part of medial thigh
  • Dorsal to the penis
  • Opposite side (crossed ectopia)
45
Q

Congenital Inguinal Hernia

A
  • Persistent Processus Vaginalis can exist if communication between Tunica Vaginalis and peritoneal cavity fails to close –> loop of intestine may herniate
  • More common in males, especially with undescended or ectopic testis, and in AIS
46
Q

Hydrocele

A
  • Abdominal end of the Processus Vaginalis remains open but too small to permit intestinal herniation
  • Peritoneal passes into the Patent Processus Vaginalis resulting in Scrotal Hydrocele
47
Q

If middle portion of Processus Vaginalis remains open, fluid may accumulate result in:

A

Hydrocele of the Spermatic Cord

48
Q

What is the most common anomaly in neonates?

A

Cryptorchidism (Hidden Testes)

49
Q

Polyhydramnios

A
  • Excessive amniotic fluid; too much produced or not enough removed effectively
  • Results from: GI obstruction (esophageal or duodenal atresia), craniofacial anomaly, trisomy 18 or 21, DM, hydrops fetalis (see fluid accumulation under skin and sometimes organs)
  • Maternal clinical signs: abdominal pain, significant swelling or bloating, breathlessness
  • If uterus grows too large then can result in increased risk of PROM
50
Q

Oligohydramnios

A
  • Too little/low amniotic fluid (<400 mL); decreased fluid does not provide enough cushion to fetus and umbilical cord (crushing of fetus by myometrum)
  • Maternal clinical signs: placental abnormality, maternal HTN
  • Results from: fetal renal agenesis, maternal uteroplacental insufficiency, maternal DM, fetal chromosomal abnormalities
51
Q

Absence of Umbilical Artery

A
  • Occurs when have one umbilical artery instead of the normal two; agenesis or degeneration of one umbilical artery
  • Present in 1/100 singletons and 5/100 multiples
  • Can be associated with chromosomal and fetal anomalies (20%)
  • Can impact perinatal and 3rd stage labor outcomes
  • Detected before birth by US
52
Q

Placenta Previa

A
  • Occurs when placenta implants in lower uterine segment or cervix
  • Often leads to serious 3rd trimester bleeding
  • Most common type of abnormal placentation
  • 20% of all cases of bleeding are due to this
  • Risk factors: previous placenta previa (60%), history of CS
  • Types: Total, Partial, Marginal, Low-lying
53
Q

Placenta Accreta Spectrum (PAS)

A
  • Occurs when the placenta grows too deeply into the wall of the uterus
  • Believe uterine remodeling during postoperative scar formation (primarily for CS) and pre-existing uterine pathology play a role in formation of this condition
  • Initially suspected on US
  • 3 types: Placenta Accreta, Placenta Increta, Placenta Percreta
54
Q

Placenta Accreta

A
  • Partial or complete absence of the decidua
  • Villious chorion adheres to the myometrium
55
Q

Placenta Increta

A

Anchoring villi penetrate into the myometrium

56
Q

Placenta Percreta

A

Anchoring placental villi penetrate through the myometrium to the uterine serosa or adjacent ligaments

57
Q

Hydatidiform Mole

A

Replacement of normal chorionic villi by dilated or hydropic (edematous) translucent vesicles – accumulation of fluid in the villi instead of mesenchyme that establishes capillaries

58
Q

Partial Mole

A
  • Portion of villi are edematous; capillaries can be seen in the villi
  • Fetal tissue commonly found
  • Results from normal ovum being fertilized with two sperm
  • Triploid (69 XXY) or tetraploid (92 XXXY) karyotype
59
Q

Complete Mole

A
  • All/most villi are enlarged, covered with trophoblast invasion
  • No fetal tissue
  • Can result from fertilization of a blighted ovum (does not contain any maternal DNA or contains only faulty DNA); all DNA is paternal
  • Can result from fertilization of ovum by two sperm – duplication of a single sperm
  • Frequent karyotype of 46 XX or 46 XY
60
Q

eInvasive Mole

A
  • Complete mole that penetrates or even perforates the uterine wall (15%)
  • Diagnosed by persistent high blood levels of hCG
  • Trophoblast deeply invades the uterine wall and can cause hemorrhaging
  • Responsive to chemotherapy
61
Q

Gestational Choriocarcinoma

A
  • Highly invasive, metastatic tumor that arises from trophoblast cells
  • Very rare
  • Observed in about 50% of patients with previous molar pregnancies
  • Diagnosed by increasing hCG titer without uterine enlargement
  • Treatment with combined chemotherapy agents usually curative
62
Q

Dizygotic (Fraternal) Twins

A
  • Originate from two zygotes
  • Two amnions
  • Two chorions
  • Two placentas
  • Normal embryonic development
  • Results from ovulation of two different eggs by two different sperm
63
Q

Monozygotic (Maternal Twins)

A
  • Originate from the division of a single zygote, but membranes are dependent upon timing of the division (Splitting in two cell stage vs splitting in early blastocyst vs later splitting
64
Q

Relationships between ____/___ are dependent on how blastocysts implant

A

Amnions/Chorions

65
Q

Monozygotic Twinning: Splitting at Two Cell Stage

A
  • Twins develop separately as dizygotic twins
  • Each twin has their own trophoblast, cytotrophoblast, and syncytiotrophoblast layers
  • Implant independently of each other
  • Normal embryonic development with individual chorions, placenta, and amnions
66
Q

Monozygotic Twinning: Splitting of Blastocyst into Two Inner Cell Masses (Early Blastocyst)

A
  • Two embryoblasts/ICMs
  • One common layer of trophoblasts, cytotrophoblasts, and syncytiotrophoblasts
  • Share a single chorion and placenta, but have separate amnions
67
Q

Monozygotic Twinning: Splitting after Formation of the Inner Cell Mass

A
  • Embryos occupy a single amnion
  • Initially have single ICM that splits into two
  • One common layer of trophoblasts, cytotrophoblasts, and syncytiotrophoblasts – single decidua basalis
  • Common amnion, chorion and placenta
68
Q

Testosterone Deficiency: 2nd-3rd Month of Gestation

A

Results in varying degrees of ambiguity in the male genitalia

69
Q

Testosterone Deficiency: 3rd Trimester of Pregnancy

A

Leads to problems in testicular descent (cryptorchidism) along with micropenis

70
Q

Testosterone Deficiency: Around Puberty

A
  • Leads to deficits in the development of secondary sexual characteristics
  • Lack of virilization (ex. hypoplasia of testes and accessory genitalia, poor muscle development, sparse body hair, high-pitched voice)
71
Q

Testosterone Deficiency: Post-Puberty

A

Leads to decrease libido, erectile dysfunction, decreased facial and body hair growth, low energy, and infertility

72
Q

Male Hypogonadism: Kallmann Syndrome

A
  • Genetic disorder
  • Occurs when GnRH neurons fail to migrate into the hypothalamus during embryonic development
  • Characterized by delayed or absent puberty, and an impaired sense of smell
  • Form of hypogonadotropic hypogonadism
  • Occurs more often in males
73
Q

Testicular Dysfunction (ex. Klinefelter’s Syndrome)
(1) Effect:
(2) Classification:

A

(1) Decreased Testosterone secretion
(2) Primary Hypogonadism (decreased Testosterone, increased LF and FSH)

74
Q

Effect of Pituitary Dysfunction (ex. tumor):

A

Decreased LH and FSH secretion

75
Q

Effect of Hypothalamic Dysfunction (ex. Kallman’s Syndrome):

A

Decreased GnRH secretion

76
Q

Leydig Cell Tumors

A
  • Tumors of testes (interstitial cell tumors)
  • Produce large amounts of testosterone
  • Should be considered if male patient presents with asymmetrical testicular enlargement
77
Q

Leydig Cell Tumors: Children

A

Children with this type of tumor present with precocious puberty which includes early development of pubic hair, penile and muscular growth beyond what is expected for the child’s age

78
Q

Male Pattern Baldness

A
  • DHT is the key androgen involved in the induction and promotion of male androgenetic alopecia
  • Could be treated with 5 alpha reductase inhibitors
79
Q

Prostate Cancer Treatment Options

A
  • Androgen receptor antagonists
  • Radiotherapy
  • Radical Prostatectomy
80
Q

Benign Prostatic Hyperplasia (BPH)

A
  • Classic signs and symptoms: urinary frequency, urinary urgency, nocturia (excessive urination at night), difficulty initiating and maintaining a urinary stream, feeling of postvoid fullness in the bladder, dribbling
  • Age and androgens have been implicated in the etiology of this disease (estrogen / androgen imbalance)
  • 5 alpha reductase inhibitors reduce prostate volume and results in improved urinary flow rates
81
Q

Type 5 PDE Inhibitors (Viagra)

A
  • Used to treat Erectile Dysfunction
  • Work by preventing the degradation of cGMP in the vascular smooth muscle of helicine arteries which then allows dilation of the corpora and adequate blood flow into the penis
82
Q

Destruction of the Internal Urethral Sphincter results in:

A

Retrograde ejaculation

GIGU Exam 2 (9 decks)

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