Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Macroorchidism in childhood and adolescence: an update.
[aromatase deficiency]
In
the
last
30
years
,
scientific
literature
has
been
enriched
with
studies
which
demonstrate
the
importance
of
evaluating
testis
volume
to
recognize
certain
genetic
and
endocrine
diseases
.
Macroorchidism
is
defined
as
an
increase
of
testicular
volume
at
least
twice
the
norm
for
age
.
In
clinical
practice
,
when
macroorchidism
is
suspected
,
the
testicular
volume
may
be
evaluated
with
the
Prader
orchidometer
and
/
or
US
,
calculated
by
this
formula
:
L
x
W
x
H
x
0
.
71
and
the
resulting
value
should
be
compared
with
a
table
of
percentiles
for
each
age
.
Macroorchidism
is
a
relatively
uncommon
sign
;
however
,
when
present
,
it
almost
always
has
clinical
relevance
.
Five
groups
of
conditions
are
reviewed
:
genetic
,
endocrine
,
idiopathic
and
secondary
to
neoplasm
or
testicular
torsions
.
An
X-
linked
mental
retardation
syndrome
must
be
suspected
in
all
patients
with
macrorchidism
,
phenotypic
abnormalities
,
and
mental
retardation
.
Furthermore
,
it
is
important
to
identify
other
males
affected
in
the
same
family
to
confirm
the
X-
linked
transmission
.
In
these
cases
,
the
patient
must
be
referred
to
specialized
cytogenetic
centres
for
determination
of
fragile
sites
.
Other
possible
etiologies
of
macroorchidism
are
long
-standing
primary
hypothyroidism
,
adrenal
remnants
in
congenital
adrenal
hyperplasia
,
follicle
stimulating
hormone
(
FSH
)
-
secreting
pituitary
macroadenomas
,
local
tumors
,
lymphomas
,
and
aromatase
deficiency
.
Early
diagnosis
is
important
in
order
to
identify
and
reduce
the
incidence
of
X-
linked
mental
retardation
in
affected
families
and
to
begin
treatment
in
endocrinologic
,
tumoral
and
surgical
disorders
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom