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WorksheetsPathophysiology III Reproductive Systems 1
Total questions: 89
Worksheet time: 45mins
X Chromosomes typically develop?
Male Phenotype
Female Phenotype
XY Chromosomes typically develop?
Male Phenotype
Female Phenotype
Hermaphroditism
What determines gonadal (primary) sex determination?
Genetic Sex
Phenotypic Sex
Sexual Hair
Nonfunctional Ovary Chromosomal Arrangement?
XX
X0
XY
DAX1 and WNT4 function?
Promote female sex development
Represses male sex development
Destroys the Mullerian Duct
Follicular cells v.s. Theca Cells?
Granulosa Cells are Present since Primordial stage
Theca cells develop in secondary follicle + Membrana Granulosum as well = Antral Fluid Production
Tertiary Follicle gives rise to Theca interna (Glandular) and Theca Externa (connective tissue)
Follicular Cells and Theca Cells together form?
Follicles that produce estrogen
Follicles that produce testosterone
Testes that produce Spermatozoa
Mullerian duct develops into?
Female internal Genitalia (Uterus, Cervix, Fallopian Tubes and Upper Vagina)
Male External Genitalia (Testes and Penis)
What genes are responsible for conversion of genital ridge to bipotential gonads?
Steroidogenic Factor (SF1)
Wilms Tumor Gene 1 (WM1)
LHX9
SOX9
Bipotential Gonads become Testis through activation of what gene?
SOX9
SRY
WNT4
DAX1
What is the role of SOX9 in testes development?
regulation of Anti-Mullerian Hormone Transcription
development of internal female genitalia
Bipotential gonads can become ovaries by activation of which genes?
WNT4
DAX1
SOX9
SRY
Function of sertoli cells?
AMH Production
Inhibin to regulate FSH Production
Androgen Binding Protein to Increase testosterone in seminiferous tubules to stim Spermatogenesis
Aromatase prod to convert TST to 17b-estradiol to direct spermatogenesis
Leydig cells are stimulated by LH to produce?
TST and DHEA
Estrogen
What hormone increases the response of leydig cells to LH?
Prolactin
ADH
What enzyme stimulates the production of DHT?
5-alpha reductase
alpha 1 antitrypsin
DHT acts on genital tubercle and urogenital sinus to form?
Penis and Prostate
Ovaries
Uterus
Male internal genitalia (epididymis, vas deferens, seminal vesicle) are formed from TST stimulating?
Wolffian Duct
Urogenital Sinus and Genital Tubercle
Mullerian Duct
Sertoli cells secete Mullerian Inhibiting Substance which causes?
Wolffian Duct Degeneration
Mullerian Duct Degeneration
Activin and Inhibin function?
TST Biosynthesis and Secretion
LH Biosynthesis and Secretion
FSH Biosynthesis and Secretion
ADH Biosynthesis and Secretion
Due to Leydig cells not being present and no testosterone available, what happens in the female Wolffian Duct?
Wolffian Duct Degeneration
Wolffian Duct Proliferation
Mullerian Duct Degeneration
FSH stimulates what in males?
Sex hair destruction
Testicular Degeneration and Enhanced production of Estrogen Binding Protein
Testicular Growth and Enhanced production of Androgen Binding Protein
Estrogen and the mullerian duct/wolffian duct?
Destroys both of them
Inhibits their development and is not needed for fertility in both sexes
Promotes their development and needed for fertility in both sexes
TST (leydig) can be converted by aromatase (sertoli) and to DHT by?
5-Beta reductase
5-alpha reductase
10-alpha reductase
LH Acts on Theca cells and causes production of?
Testosterone
ADH
Estrogens and progestins
Failure to form uterus and fallopian tubes is known as?
Mullerian Genesis
Mullerian Biopsy
Mullerian Agenesis
What factor produced by Leydig cells is needed for testes descent?
Insulin Like Growth Factor - 3
GH
GnRh
What is hydrometrocolpos?
Constriction/Tightening of vagina/uterus caused by accumulation of cervical secretions from maternal estrogen stimulation
Dilation of testes/penis caused by accumulation of cervical secretions from maternal estrogen stimulation
Dilation of vagina/uterus caused by accumulation of cervical secretions from maternal estrogen stimulation
Autosomal recessive mutation of MKKS gene can lead to?
Kallman Syndrome
Mckusick-Kaufman Syndrome
Hydrometrocolpos causes?
Imperforated Hymen
Septate Uterus
Atresia
Mckusik-Kaufman syndrome presentation in females? (Remember this TRIAD)!
HMC (Hydrometrocolpos)
Polydactyly
Congenital Heart Disease
Mckusik-Kaufman syndrome presentation in males? (remember this TRIAD)!
Genital Malformation
Polydactyly
Congenital Heart Disease
Failure of testis to descend into scrotum?
Cryptorchidism (Highly occurs in Inguinal region vs intraabdominal)
Mullerian Agenesis
Testicular Agenesis
Kallman Syndrome is a type of hypogonadotropic hypogonadism. What is the pathophysiology?
Olfactory Placode defect
Lumbar Degeneration
Testicular Maturation
Symptoms of Kallman syndrome/presentation?
Hyposmia/Anosmia
Decreased GnRH
Decreased LH/FSH
Kallman syndrome decreases which hormone levels?
Decreased TST and Estrogen/Progesterone
ADH
AMH
Due to Decreased TST and Estrogen/Progesterone in Kallman Syndrome, what happens during development?
Precocious Puberty
Failure to start puberty
Testicles must descend within 3-9 months or?
must be surgically removed by age 3
must be surgically removed by immediately at 9 months
must be surgically removed by age 2
Complications of cryptorchidism?
infertility
testicular torsion
seminoma/germ cell carcinoma
Where does the urethra open in epispadias and hypospadias, respectively?
Urethra opens in dorsal surface in epispadias and ventrally in hypospadias
Urethra opens in ventral surface in epispadias and dorsally in hypospadias
Urethra opens in left lateral surface in epispadias and right lateral in hypospadias
Risk factors for embryological malformations of the urethra?
monozygotic twins
stillbirths
preterms
Phimosis?
Prepuce is too loose and floppy
prepuce is too tight to be retracted
Main complication of phimosis?
Paraphimosis
Infection
Why is phimosis an increased risk factor for infection?
Interferes with hygiene
Prepuce needs air
Unable to ejaculate
Why is paraphimosis a medical emergency?
Urethral constriction = unable to retract foreskin back in place = gangrene and amputation
Unable to urinate afterwards
Androgen insensitivity syndrome is also known as?
Roid Rage
Anabolic Rage
Metabolic Acidosis
Testicular femenization syndrome
46XY individuals with x-linked recessive disorder and defect in androgen receptor?
Kallman Syndrome
Mckusik-Kaufman syndrome
Androgen Insensitivity Syndrome (AIS)
Androgen Insensitivity Syndrome presents as?
Normal appearing male with female genotype
Normal appearing female with male genotype
Normal appearing male with hermaphroditism
In androgen Insensitivity Syndrome, why is there degeneration of internal female sex organs even though there is a female phenotype?
Mullerian Inhibiting Factor still works because of male genotype
Prolactin Excess
ADH Excess
In androgen insensitivity syndrome, there is a loss of (-) feedback and this results in?
Decreased TST and LH, and Increased Estrogen due to conversion of TST by aromatase
Increased TST and LH, and Increased Estrogen due to conversion of TST by aromatase
Decreased TST and LH, and decreased Estrogen due to conversion of TST by aromatase
Testosterone unable to be converted to DHT results in?
no external male sex organs
Development of external male sex organs
Physical exam of AIS?
Rudimentary thyroid, Cryptorchidism and excessive sexual hair
Rudimentary penis, Cryptorchidism and massive sexual hair
Rudimentary vagina, Cryptorchidism and NO sexual hair
Partial AIS is also known as?
Reifenstein Syndrome
Kallman Syndrome
Mckusik-Kaufman Syndrome
People with mild androgen insensitivity present with?
Female sex characteristics but are infertile/may not develop breasts in puberty
Female and male sex characteristics but are infertile/may or may not develop breasts in puberty
Male sex characteristics but are infertile/may develop breasts in puberty
Absence of breast development by age 12 or testicular enlargement by age 14?
Precocious Puberty
Delayed Puberty
Early Puberty
Most common cause of constitutional delay or growth and puberty?
Genetic defect causing an extra chromosome
Autoimmune defect that causes antibodies against GnRH
Functional Defect in prod of GnRH
Primary hypogonadism causes?
Low gonadal steroids
High gonadal steroids
FSH/LH Labs for primary hypogonadism?
Decreased LH/FSH
Increased LH/FSH
Always normal LH/FSH
Conditions associated with primary hypogonadism?
Turner Syndrome
Klinefelter Syndrome
Chemotherapy Injury/Cryptorchidism
Mumps and TST synthesis
Secondary Hypogonadotropic hypogonadism labs?
Elevated LH/FSH and Excess GnRh or Gondatoropin Secretion
Low or Normal LH/FSH and Deficient GnRh and/or gonadotropin secretion
ANOS1 mutation?
Kallman Syndrome
Mckusick-Kaufman Syndrome
Androgen Insensitivity Syndrome
Renal Issue in Kallman Syndrome?
Unilateral Renal Agenesis
Bilateral Renal Agenesis
Unilateral Renal Artery Stenosis
What is Bimanual Synkinesis? What syndrome is this seen in?
Contraction of one muscle causes contraction of another
Kallman
Failure to contract 2 groups muscles at once
Mckusick-Kaufman
Turner Syndrome gene defect? Clinical Presentation?
45 X0 ; Short Stature, Hypogondism, delayed puberty, Infertility,
45 X0 ; Webbed Neck, Low Hairline, Lymphedema hands/feet, renal and skeletal problems, Coractation of Aorta and Arotic Valve Problems
Klinefelter syndrome has an extra chromosome. What is the sequence?
XX
XY
XXY
Klinefelter syndrome clinical presentation?
Taller than average, Small Testis, Cryptorchidism, Hypospadias
Low muscle tone, intellectual disability
What is precocious puberty? What is Central Precocious Puberty?
Precocious: Onset of secondary sex characteristics before age 8 (female) and 9 (Male) due to variants, normal Dev, or malignancy
Central Precocious: Gonadotropin-Dependent or TRUE Precocious Puberty
Pathophysiology of central precocious puberty?
Early maturation of hypothalamic-pituitary-gonadal axis
Late maturation of hypothalamic-pituitary-gonadal axis
Central precocious puberty presentation?
Early sequential maturation of breasts and pubic hair in females
Early Testicular. penile and pubic hair growth in males
Causes of central precocious puberty?
Idiopathic
CNS Lesions, Genetic Dysfunction
Pituitary Gonadotropin Releasing Tumor
Peripheral precocious puberty refers to?
Gonadotropin independent precocious puberty
Gonadotropin dependent precocious puberty
Causes of peripheral precocious puberty?
excess sex hormones from gonads, adrenals, exogenous or ectopic (germ cell tumor)
XX
xx
Why precocity and not puberty?
Puberty requires activation HPG axis
Precocity requires activation of HPG axis
Female causes of peripheral precocity?
Ovarian Cysts and tumors
Ovarian tumors can lead to granulosa cell tumors = isosexual
Sertoli or Leydig Cell can cause contrasexual development
Male causes of peripheral precocity?
Leydig cell tumors (TST)
HCG secreting cell tumors - increased TST
Why does primary hypothyroidism cause peripheral precocity?
excess TSH stimulating FSH receptors
Low tsh causes high fsh= precocity
McCune Albright Syndrome Triad?
Peripheral Precocious Puberty
Cafe Au Lait Spots
Fibrous Dysplasia of Bone
Mnemonic for McCune Albright? MCCUNE ABIG
Menarche Comes early
Cafe aU lait
iNcreased Estrogen
Aromatase inhibitors
Bone gone wrong - Independent of Gnrh
Pathophysiology of McCune Albright Syndrome?
mutation of protein that activates adenylyl cyclase and leads to continued stimulation of endocrine function
Liver/Heart Issues
Cholestasis/Hepatic Issues
Intestinal Polyps and Arrhythmias
Benign Non-Progressive Variants refers to?
isolated breast development in females (premature thelarche)
isolated androgen mediated sex characteristic development in males (Pubic hair axillary acne apocrine)
Benign Non Progressive Variants Diagnosis?
mildly elevated levels of Dehydroepiandrosterone (premature adrenarche)
Severely elevated levels of Dehydroepiandrosterone (premature adrenarche)
Pseudohermaphroditism?
mismatch between phenotypic sex and gonadal testes (ovary/testicle)
xx
Female Pseudohermaphroditism genotype and presentation?
XX genotype
excessive/inappropriate exposure to androgenic steroids during early gestation
Female pseudohermaphroditism is most commonly seen?
Congenital Adrenal Hyperplasia
Exogenous Administration
Aromatase Deficiency
Male pseudohermaphroditism genotype and most common cause?
XY
XX
Androgen Insensitivity Syndrome (testicular feminization)
Lupus
True hermaphroditism refers to?
Presence of ovarian and testicular tissue in XX, XX/XY, or XY with varying degrees of ambiguous genitalia
xx
Causes of true hermaphroditism?
Ovum splits and then fuses together again
SRY gene mutation = some testicular development but not enough female suppression
5 alpha reductase deficiency refers to?
Autosomal recessive defect in XY chromosomes
xx
Pathophysiology of 5-alpha reductase deficiency?
Impaired conversion of TST to DHT = impaired virilization, Normal TST/Estrogen prod, normal or elevated LH, normal internal genitalia
Ambiguous genitalia
No Gynecomastia
