You are on page 1of 5

Bahan Kuliah Ilmu Kesehatan Anak

Sistem Endokrin dan Metabolisme


KELAINAN GENITALIA PADA ANAK

Satriono, M.Sc., Dr., SpA(K)


Terakhir diperbaharui pada / Page updated :Thursday, November 18, 2004

GENITAL DISORDERS IN CHILDREN

MICROPENIS
The length of the normal newborn penis is 3.5 ± 0.7 cm.
Micropenis ----- < 3 cm (Age 1 – 11 yr)

Etiology
Micropenis results from primary or secondary testicular failure during fetal life after
morphogenesis is complete.
Secondary congenital testicular failure is seen in anencephaly, pituitary agenesis, and
Kallmann, Noonan, Prader-Willi, and other syndromes.
Other cases may be due to the presence of rudimentary testes, dwarfism, or maternal
hormone administrations.

• Gonadotropin deficiency
• GH deficiency --- Micropenis +hypoglycemia
• Hypopituitarisme, pituitary agenesis,àdwarfism
• Anencephaly,
• Anorchia,
• Rudimentary testes
• Kallmann, Noonan, Prader-Willi syndromes.
• Maternal hormone administrations.

Treatment
Treatment options include
• a trial of hormonal stimulation (testosteron) , or
• rearing as female, with later genital reconstruction.

Adjustment to the male gender role and sexual satisfaction is possible in some of these
patients.

Agenesis of the penis


Agenesis of the penis is rare and usually associated with anorectal and renal anomalies.
If the child is likely to survive the associated anomalies, rearing as a female is
recommended, with later genital reconstruction.

MySteRiOuSz 1 of 5
Bahan Kuliah Ilmu Kesehatan Anak
Sistem Endokrin dan Metabolisme
UNDESCENDED TESTES

UNDESCENDED AND ECTOPIC TESTES.


Failure to find one or both testes in the scrotum may indicate any of a variety of
congenital or acquired conditions, including true undescended testes, ectopic or
maldescended testes, retractile testes, and absent testes.

True undescended testes and maldescended or ectopic testes can be differentiated from
each other only by surgical exploration, and both conditions usually are referred to as
cryptorchidism or hidden testes.

The true undescended testis is found along the normal path of descent, and the processus
vaginalis is usually patent. The ectopic testis has completed its descent through the
inguinal canal but ends up in a subcutaneous location other than the scrotum, the most
common being a point lateral to the external inguinal ring, below the subcutaneous fascia.

CRYPTORCHIDISM
Cryptorchidism is present in 0.7% of children after 1 yr of age and in adults. The
incidence is high in full-term newborns (3.4%) and increases with prematurity (to 17% in
infants with birthweights between 2,000 and 2,500 g and to 100% in those under 900 g).
This reflects the fact that testicular descent from the inguinal canal into the scrotum takes
place in the 7th month of gestation. Spontaneous testicular descent does not occur after
the age of 1 yr.

The consequences of cryptorchidism include infertility in adulthood, tumor development


in the undescended testes, associated hernias, torsion of the cryptorchid testis, and the
possible psychologic effects of an empty scrotum. Cryptorchidism is bilateral in up to
30% of cases. Infertility is the rule in adults with untreated bilateral cryptorchidism, and
of those treated in childhood less than one third will be fertile. With unilateral
undescended testis, the rate of infertility is probably similar to that in the general
population.

The undescended testis is often histologically normal at birth, but failure of development
and atrophy are detectable by the end of the 1st yr of life, and by the end of the 2nd yr the
number of germ cells in the affected testis is severely reduced. Surgical correction at an
early age results in a greater probability of fertility in adulthood. The patient with
cryptorchidism has a 20{endash}–44% increase in risk of developing a malignant
testicular tumor in the 3rd or 4th decade of life. Patients with untreated intra-abdominal
cryptorchidism or those who underwent surgical correction during or after puberty are at
greatest risk. Although surgical correction of the cryptorchidism may not change the
overall risk of malignant transformation, very few cases of tumors have been reported in
patients whose operations were performed before 8 yr of age. Carcinoma in situ is
occasionally discovered when the testis is biopsied at the time of orchiopexy or during
evaluation for infertility later in life; its significance is unclear. The most common tumor
developing in undescended testes is the seminoma (60%); in contrast, seminomas
represent only 30% of tumors occurring in normally descended testes.

MySteRiOuSz 2 of 5
Bahan Kuliah Ilmu Kesehatan Anak
Sistem Endokrin dan Metabolisme
Indirect inguinal hernias always accompany true undescended testes and are common
with ectopic testes. Torsion and infarction of the undescended testis can occur because of
excessive mobility of such testes. The treatment of the unilateral cryptorchid testis is best
undertaken early in the 2nd yr of life. Most testes located extra-abdominally can be
brought down to the scrotum and the associated hernia corrected with an operation
(orchiopexy). This can often be performed without hospitalization. When the testis is not
palpable, preoperative laparoscopy is used to determine its location. In the majority of
cases, orchiopexy of the intra-abdominal testis located immediately inside the internal
inguinal ring offers little difficulty, but orchiectomy should be considered in the more
difficult cases or when the testis appears to be severely atrophied. Two-stage orchidopexy
is sometimes needed in high abdominal testes. Testicular prostheses are available for
older children and adolescents when the absence of the gonad in the scrotum may have an
undesirable psychologic effect but, the advisability of using silicone implants has been
questioned.

Treatment of bilateral undescended testes is identical to the treatment of unilateral


undescended testis when the testes are palpable. When testes are not palpable, however,
differential diagnosis must be made from absent testes by measuring serum testosterone
levels before and after stimulation with human chorionic gonadotropin (hCG). If the
testosterone level rises, an abdominal exploration and orchiopexy should be undertaken.
A negative response does not rule out the possible existence of intra-abdominal testicular
tissue. An attempt is made to preserve these gonads for hormonal production after
puberty; the likelihood of preserving fertility is very low.

Hormonal treatment

Hormonal treatment with


• hCG or
• luteinizing hormonereleasing hormone (LH-RH) .

Some believe that preoperative treatment with hCG facilitates surgery.

Recent reports on the advantages of hormonal treatment with LH-RH followed by HCG
for nonresponders, and early surgery for the 60% of testes that fail to descend, need to be
weighed against potential detrimental effects on pubertal penile growth of early exposure
of the penile receptors to testosterone.

RETRACTILE TESTES.
These testes retract into the inguinal canal in response to an exaggerated cremasteric
reflex. The cremasteric reflex is weak or absent at birth. Consequently, when testes that
were palpable at birth become nonpalpable later, retractile testes should be suspected.
Retractile testes can be brought down by careful palpation when the child is relaxed in a
warm room, and scrotal examination is facilitated if the child is in a squatting position.
Often more than one examination is required to establish the diagnosis. The retractile

MySteRiOuSz 3 of 5
Bahan Kuliah Ilmu Kesehatan Anak
Sistem Endokrin dan Metabolisme
testis usually adopts a permanent scrotal position during puberty and has none of the
complications commonly associated with the true undescended or ectopic testis.

ABSENT TESTES.
Approximately 20% of nonpalpable testes are absent. Congenital absence of the testis is
possible, but it is quite rare and may be associated with some degree of feminization of
the internal organs on the ipsilateral side. More commonly, the fetal testis disappears
some time after the differentiation of the internal and external genitalia has occurred. This
vanishing of the testis is usually attributed to a vascular accident that has taken place
prenatally or after birth but was not recognized clinically. At exploration, the spermatic
vessels and the vas deferens end blindly, usually somewhere in the inguinal region or in
the scrotum.
Because this condition is analogous to testicular torsion, some authors advocate fixation
of the contralateral testis to prevent torsion from occurring in the remaining gonad. In
these cases, placement of a testicular prosthesis can be considered as well.

HIPERPLASIA ADRENAL KONGENITAL.

Satriono, M.Sc., Dr., SpA(K)

CONGENITAL ADRENAL HYPERPLASIA

PATHOGENESIS.
When the adrenogenital syndrome is associated with congenital adrenal hyperplasia, it is
caused by a family of autosomal recessive disorders of adrenal steroidogenesis leading to
a deficiency of cortisol .
The deficiency of cortisol results in increased secretion of corticotropin, which leads in
turn to adrenocortical hyperplasia and overproduction of intermediary metabolites.
Severe and mild forms of these disorders, caused by variations in the severity of the
genetic mutations, have been reported.

Congenital Adrenal Hyperplasia


Deficiency of 21-hydroxylase accounts for 95% of affected patients.

CLINICAL MANIFESTATIONS
Most patients with congenital adrenal hyperplasia have the defect in 21-hydroxylation
and exhibit the classic form of the disease.
with screening 75% of infants are salt losers, without screening 50% of clinically
diagnosed infants are salt losers, presumably because of undiagnosed neonatal deaths.

MySteRiOuSz 4 of 5
Bahan Kuliah Ilmu Kesehatan Anak
Sistem Endokrin dan Metabolisme

Figure 529–2. A, A 6-yr-old girl with congenital virilizing adrenal hyperplasia. The
height age was 8.5 yr; the bone age was 13 yr; and urinary 17-ketosteroids were 50
mg/24 hr.
B, Notice the clitoral enlargement and labial fusion.
C, Five-yr-old brother of girl in A was not considered to be abnormal by the parents. The
height age was 8 yr; the bone age was 12.5 yr; and the urinary 17-ketosteroids were 36
mg/24 hr.

Figure 529–3. Three female pseudohemaphrodites with untreated congenital adrenal


hyperplasia. All were erroneously assigned male sex at birth, and each had normal
female sex-chromosome complement. Infants A and B were salt losers and were
diagnosed in early infancy. Infant C was referred at 1 yr of age because of bilateral
cryptorchidism. Notice the completely penile urethra; such complete degrees of
masculinization in females with adrenal hyperplasia are rare; most of these infants are
salt losers.

MySteRiOuSz 5 of 5