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Childhood growth of females with Kallmann syndrome and FGFR1 mutations.
[kallmann syndrome]
In
search
of
phenotypic
cues
that
would
allow
early
detection
of
Kallmann
syndrome
(
KS
)
,
we
evaluated
the
paediatric
phenotypes
in
a
series
of
females
with
KS
.
In
this
retrospective
cohort
study
,
we
investigated
childhood
growth
in
six
females
with
KS
due
to
mutations
in
FGFR
1
and
evaluated
their
reproductive
phenotypes
later
in
life
.
While
growth
during
early
infancy
and
childhood
was
within
normal
limits
,
a
decreasing
trend
in
height
SDS
already
from
mid-childhood
occurred
in
most
patients
.
The
lowest
height
SDS
(
mean
,
-
1
·
2
SDS
)
occurred
between
14
and
15
years
of
age
,
before
the
start
of
hormone
replacement
therapy
.
As
adults
,
these
women
required
assisted
reproductive
techniques
for
fertility
.
One
of
the
probands
passed
on
her
G
48
S
mutation
to
her
son
,
who
showed
normal
reproductive
hormone
levels
during
the
minipuberty
of
infancy
.
Early
diagnosis
of
female
KS
remains
a
challenge
as
early
phenotypic
signs
,
apart
from
anosmia
,
are
scarce
.
Females
with
KS
exhibit
a
slight
reduction
in
growth
rate
during
mid-childhood
,
but
normal
growth
rate
during
the
minipuberty
of
infancy
,
despite
congenital
lack
of
ovarian
oestrogen
.
Women
harbouring
FGFR
1
mutations
will
have
50
%
chance
of
passing
on
the
gene
defect
to
their
offspring
.
We
recommend
genetic
counselling
to
all
females
with
KS
to
be
carried
out
as
a
part
of
family
planning
.
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
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