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GU / GYN & Renal > Clinical Gynecology: Primary Amenorrhea > Flashcards

Clinical Gynecology: Primary Amenorrhea Flashcards

1
Q

Androgen Insensitivity Syndrome

Epidemiology

A
  • Incidence: 1/60,000
    • 9% of primary amenorrhea cases
  • Genetics: X-linked recessive
  • Genotype: XY
  • Phenotype: female
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2
Q

Androgen Insensitivity Syndrome

Pathophysiology

A

X-linked recessive mutation in androgen receptor
* Testosterone is produced but cannot activate receptor

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3
Q
  • Amenorrhea
  • Female external genitalia with small vaginal dimple
  • Absent uterus & cerviox
  • Cryptorchidic gonads
  • Absent axillary & pubic hair
  • Large breasts with juvenile nipples
  • Labs: testosterone in normal to high male range

Clinical Presentation

A

Androgen Insensitivity Syndrome

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4
Q

Androgen Insensitivity Syndrome

Approach to Therapy

A

Removal of gonads
* Recommended after completion of pubertal development
* Once removed, treat with HRT

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5
Q

Mullerian Agenesis

Epidemiology

A
  • Incidence: 1/5000
  • Normal XX karyotype
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6
Q

Mullerian Agenesis

Pathophysiology

A

Absence of uterus, cervix, and upper 2/3 of vagina
* Caused by mutations in Antimullerian Hormone or Antimullerian Hormone Receptor

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7
Q
  • Amenorrhea
  • Normal external genitalia + vaginal dimple
  • Normal breast development
  • Normal secondary sex characteristics
  • Absence of internal midline structures (pelvic exam)

Clinical Presentation

A

Mullerian Agenesis

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8
Q

Imperforate Hymen

Epidemiology

A

Most common obstructive lesion of the female genital tract: 1/1000 female births

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9
Q

Bulging, blue-domed, translucent membrane
* Can present with hematocolpos or urinary retention
* Membrane will bulge with valsalva

Clinical Presentation

A

Imperforate Hymen

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10
Q

Imperforate Hymen

Approach to Therapy

A

Surgical resection

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11
Q

Failure of canalization of the distal third of vagina
* Most common in upper & middle third of vagina

A

Transverse Vaginal Septum

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12
Q

Gonadal Dysgenesis

Pathophysiology

A

Characterized by congenital loss or underdevelopment of germ cells within gonad during organogenesis
* Gonads usually contain only fibrous tissue (streak gonads)

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13
Q

Most common form of gonadal dysgenesis

Etiology

A

Turner’s Syndrome (45, X)

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14
Q

Turner’s Syndrome

Epidemiology

A

Incidence: 1/2,000 female live births

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15
Q

Turner’s Syndrome

Pathophysiology

A

Absence of ovarian determinant genes result in premature loss of germ cells
* 45,X fetuses have same amount of germ cells as 46,XX at midgestation
* As gestation continues, accelerated loss of germ cells occurs in 45,X fetuses
* Many 45,X individuals lose all germ cells prior to birth

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16
Q

Turner’s Syndrome

Complications

A
  • Cardiac: aortic coarctation in 30% of pts; also bicuspid aortic valve, mitral valve prolapse
    • Echo recommended every 3-5 years
  • Renal: horseshoe kidney
    • Retriperitoneal ultrasound once diagnosed
  • Thyroid: hypothyroidism in 10% of pts
    • Yearly T4/TSH screening recommended
  • Deafness
17
Q
  • Amenorrhea
  • Short stature
  • Shield-shaped thorax
  • Widely spaced nipples
  • Poor breast development
  • Rudimentary ovaries / gonadal streak
  • Webbed neck

Clinical Presentation

A

Turner’s Syndrome

18
Q

Severe Hypothalamic Dysfunction

Etiology

A
  • Constitutional delay of growth & puiberty (CDGP)
  • Isolated GnRH deficiency: Kallmann syndrome
  • Hypothalamic disorders, injury, or tumors
  • Functional hypogonatropic hypogondadism: chronic illness, severe hypothyroidism
19
Q

Kallmann Syndrome

Pathophysiology

A

X-linked recessive mutation in KAL gene
* KAL gene codes for adhesion molecule
* Mutation results in lack of migration of GnRH neurons from olfactory placode

20
Q
  • Amenorrhea
  • Hypogonadotropic hypogonadism
  • Anosmia
  • Midline facial defects
  • Occasional renal agenesis
  • Absence of pubertal development

Clinical Presentation

A

Kallmann Syndrome

21
Q

Treatment of Kallmann Syndrome

Approach to Therapy

A
  • HRT to promote sexual maturation
  • Fertility possible using IM gonadotropins
22
Q

Primary Amenorrhea

Etiology

A
  1. Chromosomal abnormalities: 50%
  2. Hypothalamic hypogonadism: 20%
  3. Mullerian agenesis: 15%
  4. Transverse vaginal septum / imperferate hymen: 5%
  5. Pituitary dizease: 5%
  6. Other: 5%
    • Androgen insensitivity
    • CAH
    • PCOS

GU / GYN & Renal (23 decks)

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