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OBGYN Clerkship- Amboss Study Plan > Sexuality and sexual development disorders > Flashcards

Sexuality and sexual development disorders Flashcards

1
Q

Anomalies of Mullerian Duct Fusion

A
  1. Mullarian agenesis
  2. unicornuate uterus
  3. didelphic uterus
  4. bicornate uterus
  5. septate uterus
  6. DES- related abnormality
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2
Q

Anomalies of mullerian duct fusion

Pathophysiology

A
  • Defective fusion of the Müllerian ducts during embryonal development
  • Normally functioning gonads and female karyotype → normal development of secondary sexual characteristics(e.g., breast, pubic hair development)
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3
Q

Abnormalities of Mullerian Duct Fusion

Clinical Features

A
  • Asymptomatic before puberty
  • Infertility and dyspareunia
  • In some cases, periodic lower abdominal pain
  • Menorrhagia (bicornate)
  • Müllerian agenesis: primary amenorrhea
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4
Q

Anomalies of Mullerian duct fussion

obstetric complications

A

increased risk of the following:

  • Ectopic pregnancy
  • Cervical incompetence
  • Preterm labor
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5
Q

anomalies of mullerian duct fusion

diagnostics

A
  • Screening tests
    • Transvaginal or abdominal ultrasound
    • Hysterosalpingography
  • Confirmatory test:
    • MRI
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6
Q

Hysterosalpingography

A

radiologic procedure in which contrast dye is injected into the cervical canal and serial x-rays are obtained in order to evaluate the uterine cavity and fallopian tubes.

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7
Q

anomalies of mullerian duct fussion

Tx

A

Metroplasty- reconstruction of uterus.

Rull out other causes of infertility before surgery

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8
Q

Mullerian Agenesis

A

Both the Müllerian ducts fail to develop → absent or hypoplastic uterus, absent cervix, and vaginal atresia

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9
Q

Unicornate Uterus

A

one of the mullerian ducts fails to develop

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10
Q

Bicornate uterus

A

incomplete fussion of the mullerian ducts to various degrees

  • unicollis: double uterus, single cervix, and single vagina
  • bicollis: double uterus and double cervix with/without a vaginal septum
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11
Q

Didelphic Uterus

A

Complete lack of Mullerian duct fusion

Double uterus, double cervix, double vagina

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12
Q

Septate Uterus

A

The Müllerian ducts fuse, but the septa between the two ducts persists either partially (subseptate uterus) or completely (septate uterus).

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13
Q

DES related abnormality

A

In-utero exposure to diethylstilbestrol

  • Vagina: adenosis, adenocarcinoma
  • Cervix: cockscomb cervix, cervical collar
  • Uterus: hypoplasia, uterine synechiae, T-shaped uterine cavity
  • Fallopian tube: abnormal fimbriae, cornual budding
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14
Q

Imperforate Hymen

A

a hymen without an opening

etiology: congenital

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15
Q

imperforated hymen

pathophys

A
  1. the urogenital sinus do not disintegrate →
  2. imperforate hymen →
  3. cryptomenorrhea at puberty(outflow tract obstruction leads to backup of menstrual blood) →
  4. hematocolpos
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16
Q

imperforated hymen

clinical features

A
  • Asymptomatic before puberty
  • Primary amenorrhea with periodic lower abdominal pain
  • Possible palpable lower abdominal mass
  • Perineal examination: tense, bulging, bluish membrane in the vulva
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17
Q

imperforated hymen

Tx

A

hymenectomy

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18
Q

Vaginal atresia

A

Absent or malformed uterus and cervix

  • Agenesis or hypoplasia of the Müllerian duct → atresia of the upper ⅓ of the vagina
  • Normally functioning gonads and female karyotype → normal development of secondary sexual characteristics
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19
Q

Vaginal Atresia

Clinical Features

A
  • Asymptomatic before puberty
  • Primary amenorrhea
  • Infertility
  • Dyspareunia
  • Perineal examination: vaginal dimple and a hymenal fringe
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20
Q

Vaginal Atresia

Diagnostics

A
  • Normal levels of LH, FSH, prolactin, estradiol, and testosterone
  • Confirmatory test: ultrasound
    • Limited view of the uterus und vagina
    • associated malformations of the kidneys or urinary tract
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21
Q

Vaginal Atresia

Tx

A

vaginoplasty

22
Q

Transverse Vaginal Septum

A
  • Failure of recanalization of the Müllerian duct → transverse septum
  • Cryptomenorrhea → hematocolpos
23
Q

Transverse Vaginal Septum

Clinical Features

A
  • Asymptomatic before puberty
  • Primary amenorrhea
  • Infertility
  • Possibly, palpable lower abdominal mass
  • Perineal examination: normal vulva and external genitalia
24
Q

Transverse Vaginal Septum

Treatment

A
  • First-line: nonsurgical dilation over 6–12 months using graduated vaginal dilators
  • Second-line: vaginoplasty
25
Q

Labial Fusion

A

Partial or complete adhesionof the labia minora

26
Q

Labial Fusion

Etiology

A
  1. Absence of estrogen →
  2. predisposition to mild infection →
  3. local inflammation →
  4. raw surface epithelium of the labia minora →
  5. adhesions
27
Q

Labial Fusion

Clinical Features

A
  • If external urethral opening is obstructed: recurrent attacks of UTI, vaginitis, vestibulitis
  • Perineal examination
    • A thin vertical midline fold in the perineum
    • The labia, vaginal opening, and occasionally the urethral meatus are not visible
28
Q

Labial Fusion

Tx

A

Topical estrogen

29
Q

Androgen Insensitivity SYndrome

A

disorder of sexual development caused by an X-linked recessive loss of function mutation in the gene encoding the androgen receptor. Patients are karyotypically male (XY)

30
Q

Androgen insensitivity Syndrome

Clinical Features

A

Complete androgen insensitivity

  • Female external genitalia and physique
  • Blind-ended vaginal pouch, uterine agenesis (due to anti-Mullerian hormone secretion)
  • Absent male internal genitalia (with the exception of the testes)
  • Cryptorchid testes: intra-labial, inguinal or abdominal localization of undescended testicles
  • Scant or no pubic hair
  • Primary amenorrhea, infertility (no menarche)
31
Q

ANdrogen insensitivity syndrome

diagnosis

A
  • Before puberty: ↑ testosterone
  • After puberty: ↑ LH, ↑ estrogen, and normal/↑ testosterone levels (no virilization)
  • Genetic testing
32
Q

androgen insensitivity syndrome

Tx

A

depends on receptor status as well as on the patient’s phenotype and gender identity

  • Hormone treatment
    • Complete androgen insensitivity: estrogen replacement
    • Partial androgen insensitivity: high-dose androgen therapy can be used in patients with male gender identity
  • Gonadectomy for intra-abdominal/intra-labial testicles
    • Typically performed after puberty
    • Prevents malignant transformation of the abnormally localized gonads
33
Q

Aromatase Deficiency

A

Mutations in the CYP19A1 gene which encodes for the enzyme aromatase → ↓ serum estrogenand ↑ serum testosterone

both XX and XY

34
Q

aromatase deficiency

Clinical Features

A

XY- normal sex development

XX:

  • Birth: Ambiguous genitalia despite normal internal genital organs
  • Puberty
    • Impaired maturation of secondary sexual characteristics
    • Primary amenorrhea
    • Virilization (e.g., hirsutism, severe acne)

Both:

  • Tall stature
  • osteoporosis

Mother- virilization during pregnancy

35
Q

aromatase deficiency

Tx

A
  1. Estrogen and progesterone replacement therapy
  2. Calcium and vitamin D supplementation
  3. Surgical correction of ambiguous genitalia
36
Q

5 Alpha reductase deficiency

A
  • Normal testosterone production
  • Defective 5-alpha-reductase: testosterone not converted into dihydrotestosterone (DHT) → DHT-dependent virilization of genitalia does not occur
  • Etiology: rare autosomal recessive loss-of-function mutation of chromosome 2
  • Karyotype: 46,XY
37
Q

5 alpha reductase deficiency

Clinical features

A
  • Female external genitalia at birth,
  • Internal urogenital organs are male
  • In puberty, increasing synthesis of testosterone leads to virilization (phallic growth, testicular descent, development of male gender identity)
38
Q

5 alpha reductase deficiency

diagnostics

A
  • n/↑ testosterone, ↓ DHT, increased ratio
  • Genetic testing for definitive diagnosis
39
Q

5 alpha reductase deficiency

tx

A
  • Female gender identity: gonadectomy; estrogen substitution therapy upon completion of longitudinal growth
  • Male gender identity: testosterone substitution
40
Q

Klinefelter SYndrome

A

47XXY

nondisjucntion of sex chormosomes during meiosis.

associated with advanced maternal age

41
Q

kleinfelter syndrome

clinical features

A
  • Male phenotype
  • Testicular dysgenesis and subsequent testosterone deficiency:
    • Eunuchoid growth pattern; tall, slim stature with long extremities
    • Gynecomastia, reduced body hair
    • Testicular hypoplasia with a normal sized penis
    • Reduced fertility

Associations:

  • Mitral valve prolapse
42
Q

Klinfelter syndrome

diagnosis and tx

A
  • Diagnostics: karyotyping confirms the diagnosis
  • Therapy: testosterone substitution
43
Q

Turner Syndrome

A

Nondisjunction during meiosis → complete sex chromosomal monosomy → 45 XO, no Barr body

of Mosaiacism (with bar boddy)

44
Q

turner syndrom clinical features

A
  1. Female phenotype
  2. Lymphedema in the neonatal period affecting the hands and feet (due to abnormal development of the lymphatic system)
  3. Short stature, shield chest, widely spaced nipples, cubitus valgus;
  4. High arched palate,
  5. Webbed neck: skin folds along the side of the neck between the mastoid process and the acromion
  6. Hypertension (even in children)
  7. Gonadal dysgenesis with streak gonads :
    • Delayed puberty
    • Primary amenorrhea
    • Infertility
45
Q

Turner syndrom associated issues

A
  • Cardiovascular abnormalities
    • Bicuspid aortic valve
    • Coarctation of the aorta
    • Aortic dissection and rupture
  • Kidney and ureter malformations;
    • especially horseshoe kidney
  • Osteoporosis and pathologic fractures
46
Q

Turner Syndrome

Diagnosis

A
  • Hypergonadotropic hypogonadism → ↓ estrogen, ↓ androgens, ↑ follicle stimulating hormone, ↑ luteinizing hormone
  • Karyotyping
47
Q

Turner Syndrome

Tx

A

estrogen and progestogen substitution

48
Q

Kallmann Syndrome

A

a form of hypogonadotropic hypogonadism, associated with hyposmia/anosmia

isolated GnRH deficiency in conjunction with anosmia.

males>females

49
Q

Anosmia/ hyposmia

A

loss of sense of smell complete and partial respectively

50
Q

Kallmann SYndrome clinical Features

A
  • Anosmia or hyposmia
  • Infertility
    • male: cryptorchidism and low sperm count
    • female: primary amenorrhea
  • Absent or attenuated pubertal changes

Associated disorders

  • Renal agenesis
  • Cleft lip/palate
51
Q

Kallmann Syndrome

Tx

A

Hormone replacement therapy is given in puberty to stimulate the development of secondary sexual characteristics.

  • For men: testosterone
  • For women: estrogen and progesterone combination therapy

Gonadotropins or pulsatile GnRH therapy is used to increase fertility

OBGYN Clerkship- Amboss Study Plan (9 decks)

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