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=== Labs === * '''<span style="color:#ff0000">Karyotype''' ** '''<span style="color:#ff0000">Routine karyotype or genetic workup of patients with UDT is not recommended''' *** '''The incidence of karyotype or other genetic abnormalities in boys with cryptorchidism is low''' ** '''<span style="color:#ff0000">Indications for karyotype in UDT (2):''' **# '''<span style="color:#ff0000">Bilateral non-palpable UDT and a normal phallus with an orthotopic urethral meatus''' **#* '''A phenotypically male newborn with bilateral non-palpable testicles should be considered to be a genetic female with congential adrenal hyperplasia (21-hydroxylase deficiency) until proven otherwise''' **#** '''If XX karyotype found, obtain 17-hydroxy-progesterone levels (elevated in congential adrenal hyperplasia )''' **#** '''If XY karyotype found, the diagnosis of bilateral vanishing testicles/testicular regression syndrome (anorchia) should be considered.''' **#*** '''In such patients, the combination of high gonadotropins, low testosterone levels (even after hCG stimulation), and very low or undetectable levels of anti-Mullerian hormone and inhibin B may preclude any surgical intervention.''' **#**** '''In most cases, laparoscopic or surgical abdominal exploration is performed [regardless of hormonal levels], although hormone testing can also be useful and may be sufficient for the diagnosis of anorchia.''' **#**** '''hCG stimulation is no longer the test of choice for anorchia because it is not well standardized and has the potential for side effects and inaccuracy''' **# '''<span style="color:#ff0000">At least one UDT (particularly if non-palpable) and proximal hypospadias''' **#* '''β1/3 of these patients have a DSD''' **#* '''DSD has not been observed in patients with UDT and distal hypospadias''' **#* '''Hypospadias is associated with cryptorchidism in 12-24% of cases''' **#* WT1 mutations have been identified in 7.5% of males with proximal hypospadias and at least one UDT who were tested. '''Targeted WT1 genetic testing in patients with proximal hypospadias and at least one UDT should be considered''' ** '''Routine circumcision should be delayed until evaluation confirms a genetically normal male.''' * '''If small penile size: testosterone, LH, and FSH levels can facilitate early identification of hormone deficiency or anorchia in the first few months of life and allow early treatment''' ** '''Micropenis''' '''was reported in 46% of boys with anorchia''' '''caused by bilateral vanishing testes''' ** Small penile size associated with cryptorchidism is also observed in '''hypogonadotropic hypogonadism''' ** Contralateral testicular hypertrophy and a palpable scrotal nubbin may present in boys with unilateral vanishing testis and increase serum FSH and micropenis may be seen in boys with bilateral vanishing testes.
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