Sexual Development
35 important questions on Sexual Development
Name some other gonadal disorders affecting males.
- Persistent Müllerian Duct syndrome (uterus in males)
- Isolated hypospadias
- Cryptorchidism (Undescending testes)
What is the Ovotesticular disorder of Sexual development?
What are the treatment options for Mixed gonadal dysgenesis?
- choosing the female sex-of-rearing
- reconstructive surgery of the genitals
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What is Mixed gonadal dysgenesis?
What are the clinical features of Mixed gonadal dysgenesis?
- ambiguous genitals
- a male phenotype with females characteristics
What is the epidemiology of Turner's Syndrome?
- A prevalence of 1/2500 in females
- 50% 45,X Monosomy
- 20% 45,X/46,XX Mosaicism
- 30% structural abnormalities of X-chromosome
What are the clinical features of Turner's syndrome?
- short stature
- swelling
- broad chest
- low hairline
- low-set ears
- webbed neck
- hyperthyroidism
- amenorrhea
- combination of amenorrhea and high LH/FSH
What is the treatment for Turner's syndrome?
- stature: GH substitution
- incomplete sexual development: low-dose estrogen
How is phenotypic sex determined?
- structures of external and internal genitalia
- in males: secretion of AMH
Why does the Müllerian duct disappear in males?
What is the most common sexual development disorder?
What is Klinefelter ethiology?
- Meiotic non-disjunction of sex chromosomes
- 40% during spermatogenesis
- 60% during oogenesis
What is Klinefelter syndrome?
What are the clinical features of Klinefelter Syndrome?
- Low testosteron
- High FSH and LH
- increased estrodial
- infertility
- incomplete virilisation
- small testicles
What is the action of dihydrotestosteron?
What are the physical signs of Klinefelter?
- poor beard grow'
- wide hips
- small testicles
- long legs
- narrow shoulders
How is Klinefelter treated?
- Gynecomastia
- Androgen suppletion (testosterone)
- In vitro fertilisation
How does mosaicism work?
What is the ethiology of Turner syndrome?
- Haplo-insufficiency
- Monosomy
- Partial monosomy
- Isochromosome
Which syndrome should always be evaluated in puberal girls with amenorrhea and elevated gonadothrophin levels?
How is Turner Syndrome treated?
- GH therapy for the short stature
- low dose estrogen
Why is sex-of-rearing particulary important in gonadal dysgenesis?
What are the main sexual developmental dysorders?
- Klinefelter Syndrome
- Turner Syndrome
- Gonadal dysgenesis
- Ovotesticular Disorder
- Under-androgenized Males
What is the most important feature of Ovotesticular disorder?
What is the ethiology of Ovotesticular disorder of sexual development?
- Translocation of the SRY-gene to an X-chromosome
- Mutations on the chromosomes that allow testis determination without SRY interaction
What is the ethiology of Under-androgenized males?
- Disorders of testis development
- - Pure testicular dysgenesis (Swyer Syndrome)
- - Partial testicular dysgenesis
- Disorders of male Androgen Synthesis
- Resistance to male Androgens
What are the symptoms of Under-androgenized males?
- ambiguous genitalia
- renal abnormalities
- primary adrenal failure
- mental retardation
What are the treatment options of Under-androgenized males?
- removal of dysgenetic testes
- male androgen suppletion
How can disorders of androgen synthesis be caused?
- CYP-17 for conversion into testosterone
- CYP21A2 for conversion into cortisol
What is the most potent marker for the cause of androgen synthesis disorders?
How does a defect in the glucocorticoid pathway (17-hydroxyprogesterone
) lead to female androgenization?
What are the effects of LH receptor mutations in Leydig cells which causes insensitivity to LH?
- underproduction of testosterone
- underconversion of testosterone to DHT
What are the clinical features of the Androgen Insensitivity Syndrome (AIS) in females?
- inguinal herniae
- primary amenorrhea
- short vagina and no uterus
- female psychosexual oriëntation
- hypospadias
What are the treatment options for the AIS in females?
- Gonadectomy
- Estrogen replacement
- Graded dilators
What seems to be the main marker in diagnosing androgenized females?
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