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262 The Acute Scrotum
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Any decision regarding implantation of a
testicular prosthesis should be deferred until
adolescence.
TORSION OF TESTICULAR
APPENDAGE (HYDATID OF
MORGAGNI)
e appendix testis is a small vestigial remnant of
paramesonephric (Müllerian) origin attached to
the upper pole of the testis. Torsion of the appendix testis can occur at any age in childhood but
the peak incidence is between 10 and 12 years.
Presentation
e condition typically presents with pain, which
is usually less severe and more insidious in onset
than testicular torsion. However, the two conditions cannot be reliably dierentiated on clinical
grounds alone. Haemorrhagic infarction of the
appendix testis is sometimes visible through the
scrotal tissues as a localised area of discolouration
at the upper pole of the testis (“blue dot sign”).
Whilst this nding is diagnostic of the condition it is only apparent in a minority of cases.
Examination may reveal tenderness localised to
an indurated nodule but tenderness is oen more
generalised and accompanied by thickening and
erythema of the hemi scrotum.
Diagnosis
e clinical features may be suciently distinctive to enable an experienced clinician to make
a rm diagnosis. Colour Doppler ultrasound can
provide additional conrmation.
Management
e condition can be managed conservatively
if the diagnosis can be established with condence and the pain is mild or resolving. Surgical
intervention is indicated when testicular torsion
cannot be excluded or when discomfort is more
severe. Treatment consists of simple excision of
the infarcted hydatid of Morgagni. Prophylactic
excision of the contralateral testicular appendage is not necessary nor is prophylactic xation
of the testis.
EPIDIDYMO-ORCHITIS
Aetiology
In children and young people, epididymoorchitis usually occurs as a consequence of
bacterial infection transmitted via the ejaculatory ducts and vas deferens from the posterior
urethra. Epididymo-orchitis (particularly when
recurrent) may be linked to an underlying urological condition such as neuropathic bladder, persistent Müllerian remnant (“prostatic
utricle”, “vagina masculina”) or ectopic ureter.
However, the condition can also occur in infants
with urinary infection who have no identiable anatomical abnormality of their lower urinary tract. Epididymo-orchitis in infants is not
always accompanied by demonstrable evidence
of urinary tract infection. Such cases are thought
to result from the irritant eect of sterile urine
transmitted from the lower urinary tract to the
testis via the vas (vasal reux). Epididymitis in
sexually active adolescents and young adults may
be secondary to sexually transmitted infection –
notably chlamydia. As a result of vaccination policy mumps orchitis is now a very rare cause of
orchitis in this age group.
Presentation
Scrotal pain and swelling may be accompanied
by clinical features of urinary infection such as
dysuria or oensive urine. Examination typically
reveals marked scrotal erythema and tenderness
with induration of the testis. Epididymo-orchitis
is oen accompanied by fever and some degree of
generalised ill health.
Diagnosis
In boys of all ages, testicular torsion is considerably more common than epididymo-orchitis and
Other acute scrotal conditions / Incarcerated Hernia 263
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this diagnosis should therefore be viewed with
suspicion. Moreover, epididymo-orchitis cannot
always be reliably distinguished from testicular
torsion on clinical grounds alone. For these reasons surgical exploration is advisable unless there
is a known history of a predisposing urological
abnormality or the clinical features are strongly
indicative of epidiymo-orchitis. Conrmatory
investigations include:
Urine microscopy – pyuria, bacteriuria and
positive urine culture
Doppler ultrasound – hyperaemia and
increased vascularity
Management
Non-operative management comprises analgesia
(epididymo-orchitis is an acutely painful condition) and an intravenous antibiotic, e.g. gentamicin or ciprooxacin, pending the result of urine
culture. Antibiotic treatment should be instituted
postoperatively when the condition is discovered
at exploration.
Surgical intervention may be indicated to
resolve any diagnostic uncertainty and to drain a
scrotal or testicular abscess.
In cases of recurrent symptomatic epididymo-orchitis it may be necessary to consider
vasectomy to prevent retrograde transmission of
infecting bacteria to the testis via the vas deferens
or surgical correction of an underlying anatomical abnormality, such as a large Müllerian remnant. Excision of this structure can be performed
laparoscopically or by an open trans vesical, trans
trigonal approach. e late outcome for fertility
following these procedures is poorly documented
but they undoubtedly carry a signicant risk of
causing vasal injury.
atrophy can ensue aer recurrent attacks of
epididymo-orchitis.
IDIOPATHIC SCROTAL OEDEMA
is condition is virtually conned to the prepubertal age group, with a peak incidence between
the ages of 5 and 6 years.
Aetiology
Although the aetiology is unknown its association with anal pathology and the occasional nding of erythema extending from the perineum has
been interpreted as evidence of reactive oedema
secondary to localised lymphangitis.
Presentation
e clinical picture is characterised by marked
oedema of the scrotum, which may be unilateral
or may aect the entire scrotum – sometimes
extending upwards to involve the subcutaneous
tissues of the inguinal region (Figure 19.7). Pain
is minimal or absent. e diagnosis presents few
problems to those clinicians who are acquainted
with this distinctive condition.
Management
e scrotal swelling settles spontaneously, usually
within 24–48 hours. e use of antihistamines
and antibiotics has been described but there is no
evidence they are benecial. As a rule, no specic
treatment is required.
Prognosis
e fate of the testis cannot be reliably assessed
until all the induration has resolved, which is
generally a matter of several months. Following
an isolated episode in a child without underlying
urological abnormalities the prognosis is generally good. However, varying degrees of testicular
OTHER ACUTE SCROTAL
CONDITIONS
Incarcerated Hernia
In infancy, scrotal swelling may be the most striking visible manifestation of an inguinoscrotal
hernia. On careful palpation it should be possible
264 The Acute Scrotum
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Figure 19.7 Idiopathic scrotal oedema.
to dierentiate between an inguinoscrotal hernia (which extends downwards from the inguinal
region to the scrotum) and genuine intrascrotal
pathology.
Acute Hydrocoele
A tense, rapidly developing hydrocoele can
occasionally give rise to diagnostic uncertainty.
However, acute hydrocoeles are rarely painful
(unless associated with underlying pathology of the
testis). Transillumination conrms the diagnosis.
and it is advisable to obtain an ultrasound scan to
assess the underlying testis.
KEY POINTS
●
Torsion of the testis accounts for 90%
of acutely presenting scrotal symptoms in pubertal boys and adolescents.
However, the clinical picture is sometimes dominated by pain referred to
the ipsilateral lower abdominal quadrant or groin. e testes should always
be examined in any boy or adolescent
presenting with a sudden onset of lower
abdominal pain.
●
Urgent surgical exploration is mandatory unless there is compelling evidence of an alternative diagnosis.
●
Prophylactic suture xation of the
contralateral testis should always be
performed.
●
“Neonatal” torsion is a misnomer since
the torsion is usually an intrauterine
event and the testis is almost invariably
non-viable.
●
Torsion of a testicular appendage
(hydatid of Morgagni) in a prepubertal boy can be managed conservatively provided a condent diagnosis
has been made by an experienced
clinician.
●
Epididymo-orchitis is uncommon in
childhood and, if proven, always merits
investigation of the urinary tract.
Henoch–Schonlein Vasculitis
Involvement of the testis, giving rise to tenderness, swelling and scrotal discolouration, is a
well-documented complication of Henoch–
Schonlein vasculitis. e presence of a purpuric
rash should give the clue to the diagnosis and
thus avert unnecessary surgical intervention.
However, testicular torsion can very rarely occur
in conjunction with Henoch–Schonlein vasculitis
FURTHER READING
Baglaj M, Carachi R. Neonatal bilateral testicu-
lar torsion: a plea for emergency exploration. J Urol. 2007;177(6):2296–2299.
Colliver DW, Thomas DFM. Testicular torsion. In
Ledbetter D J, Johnson PRV (eds), Endocrine
Surgery in Children. Berlin: Springer, 2017:
293–304.
Other acute scrotal conditions / Henoch–Schonlein Vasculitis 265
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Drlík M, Kočvara R. Torsion of spermatic
cord in children: a review. J Pediatr Urol.
2013;9(3):259–266.
Gielchinsky I, Suraqui E, Hidas G, Zuaiter M,
Landau EH, Simon A, Duvdevani M, Gofrit
ON, Pode D, Rosenberg S. Pregnancy
rates after testicular torsion. J Urol.
2016;196(3):852–855.
Makela EP, Roine RP, Taskinen S. Paternity, erec-
tile function, and health-related quality of
life in patients operated for paediatric testicular torsion. J Pediatr Urol. 2020;16(1):44.
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Disorders of Sex Development
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EMILIE K JOHNSON and ELIZABETH B YERKES
Topics covered
20
Denitions and nomenclature
Classication of DSD
Evaluation of a child with suspected DSD
INTRODUCTION
is chapter provides a detailed account of the
biology and treatment options for the range of
conditions classied as dierences/disorders
of sex development (DSD). e controversial
aspects of the medical care of children with
DSDs will be briey addressed although they lie
largely outside the scope of this chapter.
DEFINITION AND
NOMENCLATURE
e term DSD describes individuals with atypical or discordant chromosomal, gonadal, or
phenotypic sex. Historically, DSDs have been
broadly classied according to atypical or
ambiguous appearances of the genitalia but the
current denition encompasses a much wider
Gender assignment/sex designation
Surgical management
range of disorders. Until recently, DSDs were
typically diagnosed with atypical genitalia in
the neonate or with primary amenorrhea in
adolescence. However, DSDs are increasingly
being diagnosed prenatally or during evaluation
of children with conditions such as short stature
or hypertension.
MULTIDISCIPLINARY CARE
MODEL
In 2006, an international panel proposed a new
nomenclature for DSD (Table 20.1) and recommended that all children with DSDs should receive
multidisciplinary care provided by a team which,
at a minimum should include: pediatric urologists
(or pediatric surgeons), pediatric endocrinologists, and appropriate mental health professionals.
Wherever possible, the multidisciplinary team
should also include specialists in gynecology, social
267
268 Disorders of Sex Development
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Table 20.1 Revised nomenclature
Previous Proposed
Intersex DSD
Male pseudohermaphrodite 46XY DSD
Female pseudohermaphrodite 46XX DSD
True hermaphrodite Ovotesticular DSD
Mixed gonadal dysgenesis Mixed gonadal dysgenesis (unchanged)
XX male or XX sex reversal 46XX testicular DSD
XY sex reversal 46XY complete gonadal dysgenesis
Source: Lee PA, et al. (see Further Reading).
work, nursing, neonatology, fertility medicine, and
the provision of peer support.
CONTROVERSIES
SURROUNDING
NOMENCLATURE
Although the revised nomenclature has generally been embraced by the medical community
and is more acceptable for patients and families
than the traditional terminology, it nevertheless
remains controversial. Some individuals prefer
the older term “intersex” while others prefer a
named diagnosis, e.g. congenital adrenal hyperplasia (CAH). Indeed, many individuals living with CAH and do not consider themselves
to have a DSD but regard themselves as having
an endocrine condition. Additionally, while
some patients with proximal hypospadias will
have a denable DSD diagnosis, others have no
clearly dened genetic or endocrinologic condition which would classify them as having a
DSD which might benet from multidisciplinary
follow-up. Patients and parents should be asked
which terminology they prefer to use. For the
purposes of this chapter the medically accepted
DSD nomenclature will be used.
understanding the etiology and clinical features
of the dierent forms of DSD (see Chapter 1).
DSDs can originate at dierent stages in the
complex pathways of normal development. ese
can be briey categorized as follows:
CHROMOSOMAL
Genetically determined defects of gonadal development include mixed gonadal dysgenesis (MGD)
and ovotesticular DSD (previously termed true
hermaphroditism).
GENE MUTATIONS
DSDs may result from gene mutations which
are not apparent on a conventional karyotype
examination. For example, mutations of genes
on the Y chromosome may result in impaired
dierentiation, development and function of
the testes despite a 46XY karyotype. X-linked
mutations occurring in individuals with a 46XY
karyotype may be associated with androgen
receptor defects.
EMBRYOLOGY
Knowledge of the normal embryological development of the genital tract provides the key to
ENDOCRINE
DSDs may result from defects in endocrine biosynthetic pathways and may also result from
Congenital adrenal hyperplasia (CAH) 269
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defects in the receptors responsible for mediating the eects of sex hormones in the target
tissues. Prime examples of the former are CAH
and 5-alpha reductase deciency. Examples of
DSDs due to receptor defects include complete
and partial androgen insensitivity (CAIS/PAIS).
e severity of the defect in hormonal synthesis or receptor activity can be very variable.
Consequently, the genital phenotype and/or
functional deciency can vary considerably even
among individuals sharing the same underlying
diagnosis.
CLASSIFICATION
46XX DSD
is is characterized by masculinization of the
genitalia in individuals with a female (46XX)
karyotype. It results from exposure of the
exte rnal genita lia high to androgen levels during
intrauterine development. e atypical features
of the external genitalia may include enlargement
of the clitoro-phallic structure, varying degrees
of labioscrotal fusion, and rugated (scrotal like)
appearance of the labia. e internal genitalia
usually retain a female phenotype with normal
uterus, fallopian tubes, and ovaries.
CONGENITAL ADRENAL
HYPERPLASIA (CAH)
CAH is the commonest form of 46XX DSD and
the most frequent cause of ambiguous genitalia
in Western countries. It is an autosomal recessive
condition linked to mutations in genes encoding for one of three enzymes in the biosynthetic
pathways for steroid hormones in the adrenals
(Figure 20.1). Enzyme deciencies give rise to a
Figure 20.1 Adrenal steroid pathway. Sites of enzyme blockage in congenital adrenal hyperplasia
are noted.
270 Disorders of Sex Development
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block in the biosynthetic pathway of adrenal hormones and consequent accumulation of steroid
precursors which are diverted down an androgen
synthesis pathway. e pituitary gland responds
to the reduced levels of cortisol and aldosterone
by increased secretion of adrenocorticotropic
hormone (ACTH). In turn, this drives the adrenal biosynthetic pathway to produce even more
androgens.
e degree of masculinization of the external
genitalia varies according to the specic enzyme
deciency and the severity of the block it causes.
Figure 20.2 Further masculinization can also
occur postnatally if replacement of adrenal hormones is not sucient to suppress the ACTH
drive. Severe forms of CAH can lead to a lifethreatening salt wasting (hyponatremic) condition in neonates. For this reason, any infant born
with apparent hypospadias and bilateral nonpalpable gonads should be investigated for CAH
before being discharged from the hospital.
21-Hydroxylase Deciency
is is the commonest form of CAH, accounting for >95% of cases. Estimates of the incidence
range from 1:10,000 to 1:20,000 live births. e
gene encoding for 21-hydroxylase (CYP21A2)
is located on chromosome 6. Deciency of
21-hydroxylase results in increased levels of
aldosterone and cortisol precursors, most notably 17-hydroxyprogesterone (17-OHP). is form
of CAH can sometimes be diagnosed prenatally,
particularly when another family member is
aected. Prenatal treatment with dexamethasone
to suppress the fetal pituitary adrenal axis and
minimize masculinization of the genitalia has
been reported but has not been widely adopted.
Approximately 75% of individuals with classical 21-hydroxylase deciency have the salt-wasting
variant which can present with a life-threatening
adrenal crisis in the rst 2 weeks of life.
11β-Hydroxylase Deciency
is form of CAH is associated with salt-retention mediated hypertension (via precursors of
aldosterone) in addition to masculinization of the
external genitalia.
Figure 20.2 Two examples of genital appear-
ance in newborn infants with 46XX congenital
adrenal hyperplasia. Note clitoro-phallic structure and a single opening for urogenital sinus.
Labioscrotal folds are fused and rugated with
no palpable gonads.
3β-Hydroxysteroid Dehydrogenase
Deciency (Figure 20.3)
is is the rarest form of CAH and is the only
form which may be associated with an atypical
genital phenotype in a 46XY child. In its classic
Figure 20.3 Genital appearance in an infant
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with 46XY 3β-hydroxysteroid dehydrogenase deciency. Note clitoro-phallic structure
with opening at the base and urethral plate
“ns”, rugated labioscrotal folds with lack of
posterior fusion. Gonads were palpable but
undescended.
46XX gonadal dysgenesis 271
experience premature onset of puberty due to elevated androgen levels and may also be at greater
risk of impaired fertility.
AROMATASE DEFICIENCY
is rare cause of 46XX DSD, is an autosomal
recessive condition caused by deciency of the
enzyme responsible for converting testosterone
to estrogen. Aromatase deciency leads to the
accumulation of androgens and masculinization
of the external genitalia.
MATERNAL ANDROGEN
EXPOSURE
Intrauterine exposure to maternal androgens
(produced by androgen secreting tumors or due
to treatment with androgenic progestins) is a rare
cause of masculinization of female external genitalia. is possibility should always be explored
by taking a detailed prenatal history.
form, 3β-hydroxysteroid deciency presents with
a neonatal salt-wasting adrenal crisis.
MANAGEMENT
e primary management of CAH centers on
modulating the eects of the enzymatic defect.
As nearly all patients will require corticosteroid replacement, additional dosages of steroid
replacement will be needed to cover surgical procedures and at time of illnesses.
Historically, most families have elected for a
female sex of rearing and individuals with 46XX
CAH usually express a female gender identity.
Nevertheless, there is evidence that gender dysphoria and non-binary gender identity are more
common than was previously recognized. Males
with 21-hydroxylase deciency generally have
typical male external and internal genitalia,
and male gender identity. However, they may
46XX TESTICULAR DSD
Individuals with a 46XX karyotype may express
a typical male genital phenotype if there has been
a translocation of genetic material from the sex
determining region on Y chromosome (SRY) gene
onto an X chromosome and consequent dierentiation down a male pathway. e external genitalia are usually unambiguously male. Depending
on the nature of the translocation defect, however,
some individuals may have undescended testes,
hypospadias, and occasionally ambiguous genitalia. Aected individuals are usually infertile.
46XX GONADAL DYSGENESIS
Turner syndrome (45X) is considered below.
However, rare individuals with a 46XX karyotype
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