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Undescended Testicle
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== Pathogenesis == * '''<span style="color:#ff0000">Classified congenital vs. acquired''' ** '''<span style="color:#ff0000">Distinction based on findings documented during the neonatal exam.''' *** In congenital cases, the testicle is not palpable in the scrotum at birth *** In acquired cryptorchidism (or “ascending” testicle) is in a normal location at birth (or on subsequent well-child exams), but not later in life. === Congenital === * '''<span style="color:#ff0000">Perinatal risk factors (4):''' *# '''<span style="color:#ff0000">Prematurity''' *# '''<span style="color:#ff0000">Low birth weight or small size for gestational age''' *# '''<span style="color:#ff0000">Breech presentation''' *# '''<span style="color:#ff0000">Maternal diabetes''' * '''<span style="color:#ff0000">Genetic susceptibility''' ** '''<span style="color:#ff0000">Family history</span>'''; susceptibility is likely polygenic and multifactorial ** Although multiple genetic variants likely contribute to the risk of non-syndromic cryptorchidism, most remain unknown at this time. * '''<span style="color:#ff0000">Environmental risk factors (4):''' *# '''<span style="color:#ff0000">Maternal smoking''' *# '''<span style="color:#ff0000">Maternal use of acetaminophen''' *# '''<span style="color:#ff0000">Abnormalities in pituitary and/or gonadal hormone secretion during infancy''' in the absence of generalized, persistent endocrine dysfunction *# '''<span style="color:#ff0000">Environmental chemicals:</span>''' potential associations in selected populations but not strongly supported as a cause of increased susceptibility to cryptorchidism * '''<span style="color:#ff0000">Syndromic Cryptorchidism''' ** '''Undescended testes are frequently present in diseases associated with reduced androgen production and/or action, such as androgen biosynthetic defects, androgen insensitivity, Leydig cell agenesis, and gonadotropin deficiency disorders''' ** '''Conditions associated with cryptorchidism''' **# '''<span style="color:#ff0000">Persistent müllerian duct syndrome''' **#* '''See [[Disorders of Sexual Differentiation]] Chapter Notes''' **# '''<span style="color:#ff0000">Klinefelter syndrome''' **#* '''See [[Disorders of Sexual Differentiation]] Chapter Notes''' **# '''<span style="color:#ff0000">Down syndrome (trisomy 21)''' **# '''<span style="color:#ff0000">Prune-belly syndrome''' **# '''<span style="color:#ff0000">Prader-Willi syndrome''' **# '''<span style="color:#ff0000">Noonan’s syndrome''' **# '''<span style="color:#ff0000">Myelomeningocele''' **# '''<span style="color:#ff0000">Posterior urethral valve''' **# '''<span style="color:#ff0000">Cerebral palsy''' **# '''<span style="color:#ff0000">Arthrogryposis''' **# '''<span style="color:#ff0000">Spigelian hernia, omphalocele, gastroschisis, imperforate anus, umbilical hernia''' === Acquired === * Most likely represents a milder presentation of congenital cryptorchidism that escapes detection in infancy * '''Diagnosed at an average age of 8 to 11 years''' * '''More commonly in a lower position, associated with a closed processus vaginalis and normal epididymis, than in cases diagnosed as congenital.''' * '''May be more likely in boys with retractile testes''' (scrotal testes that retract easily out of the scrotum but can be manually replaced in a stable scrotal position and remain there at least temporarily until there is recurrent stimulation), although testis retractility is common in normal populations
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