309- What is retractile testis?
Retractile testis refers to testis which has completed its descent to scrotum but
which ascends to groin due to exaggerated cremasteric refl ex. Retractile testis
can be brought down to scrotum by manipulation and may remain in scrotum at
least temporarily. Retractile testis is usually bilateral and is commonly observed
in children between 2 and 6 years of age.- What are the causes of cryptorchidism?
The most common cause of isolated cryptorchidism is idiopathic, and the other
common causes include hypogonadotropic hypogonadism, Klinefelter’s syn-
drome, Noonan syndrome, and obesity–hypogonadism syndromes. DSD is an
uncommon cause of cryptorchidism and accounts for only 3 % of all cases.
Partial androgen insensitivity syndrome and androgen biosynthetic defects are
the common DSDs that can also present with isolated cryptorchidism. However,
if cryptorchidism is associated with hypospadias, the likelihood of having a
DSD increases to 13 %, and the causes include partial androgen insensitivity
syndrome, androgen biosynthetic defects, ovotesticular DSD, mixed gonadal
dysgenesis, and 46,XY partial gonadal dysgenesis. In addition, bilateral non-
palpable testis due to anorchidism with apparent male genitalia (Prader 5) is
seen in congenital adrenal hyperplasia due to 21α-hydroxylase defi ciency and
vanishing testes syndrome (congenital anorchia).- How to differentiate bilateral undescended testes from anorchidism?
All children with bilateral cryptorchidism should be evaluated for the presence of
testes by imaging. Ultrasonography is useful, especially for detection of testes
located in the inguinal region, whereas MRI is required to localize the testes at
deep inguinal ring and abdomen. During infancy and peripubertal period, estima-
tion of gonadotropins and testosterone helps in determination of presence or
absence of testis, because of reactivation of HPG-axis during these periods of life.
High gonadotropin level with low testosterone is highly suggestive of anorchia or
dysgenetic testes; whereas, low gonadotropin level with low testosterone suggest
cryptorchidism due to hypogonadotropic hypogonadism. However, in prepuber-
tal period, estimation of gonadotropins and testosterone cannot reliably distin-
guish anorchia from cryptorchidism; hence, hCG stimulation test should be
performed in this scenario. Estimation of inhibin B and AMH can be used to
differentiate anorchia from cryptorchidism at any age. An undetectable serum
inhibin B or anti-Mullerian hormone is highly suggestive of anorchia. Finally,
diagnostic laparoscopy is the gold standard method to localize the testis (Fig. 9.9 ).9 Disorders of Sex Development