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of growth and
puberty
dr. Yulia Ariani, Sp.A
Departemen Biologi Kedoktera FKUI
GROWTH
Growth
Growth : gain of body weight (BW),
body height (BH), or head
circumference (HC)
Growth is influenced by environment
and genetic factors
Body height is highly heritable
high genetic contribution, polygenic
and multifactorial
Heritability index for BH 0,6 0,8
Genes
Mutations of genes expressed along the
somatotropic axis (GH coding gene, its
receptor, etc) and transcription factors
(HESX1, LHX3, LHX4, PROP1, POU1F1,
SOX3, SOX2, etc)
Mutation of genes involved in bone
formation (FGFR3, COLI-A1)
Anomalies of SHOX gene, located in
sex chromosome most frequent
SHOX gene
SHOX gene is located at the tip of
both sex chromosome inside the
telomeric part of pseudoautosomal
region I (PAR I) which comprises
around 2,6Mb
There is no difference between SHOX
(X) dan SHOX (Y)
Turner syndrome
Turner syndrome (TS) is almost always
associated with the loss of one SHOX gene
because of the numerical or structural
aberration of the X chromosome
female with absence of one X chromosome
Incidence: 1 in 1200 2500 females (90%
of them undergo spontaneous abortion)
Short stature (57 inches average)
Hormone therapy may increase height
PUBERTY
Puberty
Puberty corresponds to the activation
of the hypothalamo-hypophysealgonadal function full development
of sexual characteristics, final height,
reproductive function and fertility
Stages in pubertal were classified
according Tanner classification,
focussing on secondary sexual
characterisrics
Turner syndrome
Sometimes is undetectable until puberty, as
secondary sex characteristics and
menstruation are not appearing
Ovaries (gonad) do not develop prenatally
leads to high level of FSH and LH in early
childhood hypergonadrotropic
hypogonadism
Hormone therapy may induce menstruation
nevertheless it does not work for pregnancy
purpose
Kallmann syndrome
KS is a combination of congenital hypogonadrotropic
hypogonadism disorder and decrease/absent sense of
smell (anosmia)
Caused by disturbance of intrauterine migration of GnRH
neurons from the olfactory placodes to hypothalamus
insufficient/absent of GnRH insufficient of FSH/LH
hypogonadism
Clinically and genetically heterogenous, most cases are
sporadic (60%)
Genes involved are vary
In familial cases mode of inheritance is vary
(autosomal recessive, autosomal dominant, X-linked
recessive, oligogenic)
KS genes
KAL1 ???
FGFR1 in 10% - 30% of KS cases
FGF8
PROK2
PROKR2
WDR11
KAL 1 gene
FGFR 1 gene
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