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Disorders of Sexual Differentiation: Difference between revisions

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|'''Females'''
|'''Females'''
|-
|-
|'''Urogenital sinus'''
|'''<span style="color:#ff0000">Urogenital sinus</span>'''
|'''Bladder'''
|'''Bladder'''
|'''Transitional and peripheral zone of prostate'''
|'''Transitional and peripheral zone of prostate'''
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'''Urethra'''
'''Urethra'''
|-
|-
|'''Wollfian duct'''
|'''<span style="color:#ff0000">Wollfian duct</span>'''
|'''Renal collecting tubules and ducts, calyces, infundibulae, pelvis, and ureters[https://embryology.oit.duke.edu/urogenital/urogenital.html §][http://www.meddean.luc.edu/lumen/MedEd/urology/nlurtdv.htm §]'''
|'''Renal collecting tubules and ducts, calyces, infundibulae, pelvis, and ureters[https://embryology.oit.duke.edu/urogenital/urogenital.html §][http://www.meddean.luc.edu/lumen/MedEd/urology/nlurtdv.htm §]'''
|'''Central zone of prostate'''
|'''Central zone of prostate'''
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'''Epoopheron or paraoopheron'''
'''Epoopheron or paraoopheron'''
|-
|-
|'''Mullerian duct'''
|'''<span style="color:#ff0000">Mullerian duct</span>'''
|
|
|'''Remnants:'''
|'''Remnants:'''
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'''Proximal 2/3rd of the vagina'''
'''Proximal 2/3rd of the vagina'''
|-
|-
|'''Mesonephric tubules'''
|'''<span style="color:#ff0000">Mesonephric tubules</span>'''
|
|
|'''Efferent ductules and head of epididymis'''
|'''Efferent ductules and head of epididymis'''
|
|
|-
|-
|'''Genital tubercle'''
|'''<span style="color:#ff0000">Genital tubercle</span>'''
|
|
|'''Penis'''
|'''Penis'''
|'''Clitoris'''
|'''Clitoris'''
|-
|-
|'''Urethral folds'''
|'''<span style="color:#ff0000">Urethral folds</span>'''
|
|
|'''Corpus spongiosum/penile shaft'''
|'''Corpus spongiosum/penile shaft'''
|'''Labia minora'''
|'''Labia minora'''
|-
|-
|'''Labioscrotal swellings'''
|'''<span style="color:#ff0000">Labioscrotal swellings</span>'''
|
|
|'''Scrotum'''
|'''Scrotum'''
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==== Klinefelter syndrome ====
==== Klinefelter syndrome ====
* '''<span style="color:#ff0000">Karyotype: characterized by 1 Y chromosome and ≥ 2 X chromosomes</span>'''
* '''<span style="color:#ff0000">Karyotype: characterized by 1 Y chromosome and ≥ 2 X chromosomes</span>'''
** '''Most common karyotype will be 47,XXY'''
** '''<span style="color:#ff0000">Most common karyotype will be 47,XXY'''
* '''Epidemiology'''
* '''Epidemiology'''
** Incidence: 1 in 600 live-born males
** Incidence: 1 in 600 live-born males
*** '''Most common major abnormality of sexual differentiation'''
*** '''<span style="color:#ff0000">Most common major abnormality of sexual differentiation'''
* '''<span style="color:#ff0000">Clinical characteristics (7):</span>'''
* '''<span style="color:#ff0000">Clinical characteristics (7):</span>'''
*# '''<span style="color:#ff0000">Primary hypogonadism</span>'''
*# '''<span style="color:#ff0000">Primary hypogonadism</span>'''
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*#*'''<span style="color:#ff0000">Vast majority are azoospermic</span>'''
*#*'''<span style="color:#ff0000">Vast majority are azoospermic</span>'''
*#** '''Presence of sperm suggests 46,XY/47,XXY mosaicism'''
*#** '''Presence of sperm suggests 46,XY/47,XXY mosaicism'''
*#* '''Fertility is possible with the use of testicular sperm extraction (TESE)'''
*#* '''<span style="color:#ff0000">Fertility is possible with the use of testicular sperm extraction (TESE)</span>'''
*#** Some advocate combining intracytoplasmic sperm injection (ICSI) with pre-implantation diagnosis, given the lower (54%) rate of normal embryos from Klinefelter syndrome patients
*#** Some advocate combining intracytoplasmic sperm injection (ICSI) with pre-implantation diagnosis, given the lower (54%) rate of normal embryos from Klinefelter syndrome patients
*# '''Autoimmune disorders'''
*# '''Autoimmune disorders'''
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*#* Decreased verbal skills, frontal executive function and cognitive skills
*#* Decreased verbal skills, frontal executive function and cognitive skills
* '''Management'''
* '''Management'''
** Androgen supplementation in selected male patients to improve libido
** '''Exogenous testosterone to treat signs and symptoms associated with low testosterone'''
** Reduction mammoplasty, if necessary
** Reduction mammoplasty, if necessary
** '''Surveillance for testicular tumor and breast carcinoma'''
** '''Surveillance for testicular tumor and breast carcinoma'''
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=== Diagnosis and Evaluation ===
=== Diagnosis and Evaluation ===
* '''History and physical exam (including stretched penile length, palpable testis, hypospadias, etc.)'''
 
* '''Laboratory investigations (4):'''
==== UrologySchool.com Summary ====
*# '''Karyotype'''
*'''<span style="color:#ff0000">History and physical exam (including stretched penile length, palpable testis, hypospadias, etc.)'''
*# '''Serum electrolytes (rule out salt-wasting from CAH)'''
* '''<span style="color:#ff0000">Laboratory investigations (4):'''
*# '''Testosterone, DHT'''
*# '''<span style="color:#ff0000">Karyotype'''
*# '''17-hydroxyprogesterone (rule out 21-OH deficiency; should not be measured until day 3-4)'''
*# '''<span style="color:#ff0000">Serum electrolytes (rule out salt-wasting from CAH)'''
* '''Imaging'''
*# '''<span style="color:#ff0000">Testosterone, DHT'''
** '''Pelvis US to determine presence of Mullerian-derived structures'''
*# '''<span style="color:#ff0000">17-hydroxyprogesterone (rule out 21-OH deficiency; should not be measured until day 3-4)'''
* '''<span style="color:#ff0000">Imaging (1)'''
*# '''<span style="color:#ff0000">Pelvis US to determine presence of Mullerian-derived structures'''


==== History and Physical exam ====
==== History and Physical exam ====
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***'''In addition to defining müllerian anatomy and confirming the presence or absence of a uterus, the gonads and adrenals should be studied.'''
***'''In addition to defining müllerian anatomy and confirming the presence or absence of a uterus, the gonads and adrenals should be studied.'''


==== Labs ====
==== Labs (7) ====
*'''Karyotype'''  
#'''<span style="color:#ff0000">Karyotype'''  
**Should be obtained within the immediate neonatal period
#*Should be obtained within the immediate neonatal period
*'''Serum electrolytes'''
#'''<span style="color:#ff0000">Serum electrolytes'''
**'''Should be sent immediately sent to rule out a saltwasting form of CAH'''
#*'''Should be sent immediately sent to rule out a saltwasting form of CAH'''
*'''Testosterone and DHT'''
#'''<span style="color:#ff0000">Testosterone and DHT'''
**'''Should be measured early'''
#*'''Should be measured early'''
*'''17-hydroxyprogesterone'''
#'''<span style="color:#ff0000">17-hydroxyprogesterone'''
**'''Should not be measured until day 3 or 4 to rule out 21-hydroxylase deficiency, because the stress of delivery may result in physiologic elevation of this steroid precursor in the first 1 or 2 days of life.'''
#*'''Should not be measured until day 3 or 4 to rule out 21-hydroxylase deficiency, because the stress of delivery may result in physiologic elevation of this steroid precursor in the first 1 or 2 days of life.'''
*'''hCG stimulation test'''
#'''hCG stimulation test'''
**'''In the absence of palpable testes, the presence or absence of testicular tissue should be determined by documentation of a markedly elevated LH level, consistent with anorchia, or by means of an hCG stimulation test, which can demonstrate normally functioning testicular tissue.'''
#*'''In the absence of palpable testes, the presence or absence of testicular tissue should be determined by documentation of a markedly elevated LH level, consistent with anorchia, or by means of an hCG stimulation test, which can demonstrate normally functioning testicular tissue.'''
***'''In addition to ruling out anorchia, the [hCG stimulation] study can enable diagnosis of 5α-reductase deficiency (by virtue of an increased ratio of testosterone to DHT) and can help distinguish between impaired testosterone synthesis (deficient response to hCG) and androgen insensitivity (normal response to hCG).'''
#**'''In addition to ruling out anorchia, the [hCG stimulation] study can enable diagnosis of 5α-reductase deficiency (by virtue of an increased ratio of testosterone to DHT) and can help distinguish between impaired testosterone synthesis (deficient response to hCG) and androgen insensitivity (normal response to hCG).'''
*'''Serum MIS'''
#'''Serum MIS'''
**'''Should be included as a marker of the presence of testicular tissue'''
#*'''Should be included as a marker of the presence of testicular tissue'''
*'''PCR characterization of the androgen receptor''' in venous blood DNA
#'''PCR characterization of the androgen receptor''' in venous blood DNA
**May define the precise genetic abnormality responsible for a given DSD, be it abnormal androgen receptor or an enzyme abnormality.
#*May define the precise genetic abnormality responsible for a given DSD, be it abnormal androgen receptor or an enzyme abnormality.


==== Imaging ====
==== Imaging ====
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