1 ORMONI SESSUALI NELLA DONNA 1. FISIOPATOLOGIA 2. IPOGONADISMO NELLA DONNA 3. IPERPLASIA SURRENALE CONGENITA 4. IRSUTISMO [email protected]0815666627 Prof. Antonio SINISI CATTEDRA DI ENDOCRINOLOGIA SECONDA UNIVERSITA’ DI NAPOLI ORMONI SESSUALI NELLA DONNA OVAIO SURRENE PLACENTA E2, A, T, P4 E3, E2, A DEA, A, T scaricato da www.sunhope.it
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ORMONI SESSUALI NELLA DONNA1. FISIOPATOLOGIA2. IPOGONADISMO NELLA DONNA3. IPERPLASIA SURRENALE CONGENITA4. IRSUTISMO
• Possible causative roles:1. Primary bone defect2. SHOX homeobox gene3. Partial GH insensitivity
Turner syndrome: state of art
SHOX geneExpressed on both inactive and active X and Y
chromosome
Turner syndrome: state of art
Isolated mutations of SHOX are associated with short stature and bone abnormalities sensorineural deafness
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• Most of TS undergo a progressive degeneration of oocytes, apoptosis of follicles and ovarian stromal fibrosis, withgonadal insufficiency
• This is revealed by elevated levels of GnX(LH, FSH), with low levels of estradiol (E2)
• Most of them have no pubertal development. Some have regular menses for varyinglengths of time. Rarely they can achievepregnancies.
Ovarian DysfunctionTurner syndrome: state of art
• Ovarian function is preserved in some women, with puberty and menses.
1. Only 8% of X monosomy2. 47% of mosaics
• Only few of them maintain that tofertility (5%), with 40% end withspontaneous abortion
Ovarian Dysfunction
Turner syndrome: state of art
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Cardiovascular disease
A. CONGENITAL HEART DISEASE. Most common in pure 45,X monosomy, consisting in a seriesof abnormalities, first of allbicuspid aortic valve
B. AORTIC DISSECTION. Prevalenceestimated to be btw 8-42% ! Riskfactors (GH?):
• Hypertension• Abnormal aortic valve• Other left-sided cardiac
malformationsIt can be detected by MRI or
Echocardiography
Turner syndrome: state of art
Cardiovascular disease
C. HYPERTENSION. It occurs in children and in adults. Failure to recognize it may contribute to excesscardiovascular mortality. No association withkaryotype (influence of therapies). Protection fromestrogens.
D. ISCHEMIC HEART DISEASE. Twice compared withgeneral population. Risk factors:
• Insulin resistance, DM2 (up to 50%)• Dyslipidemia• Lack of estrogen protection
Blood pressure, lipids and glucose must be monitored frequently. MRI or echocardiography must be performed to detect early cv abnormalities
high arched palate (deletion of connettive-related-gene)
Turner syndrome: state of art
Structural BONE DEFORMATIONS are responsible forTS stigmata and are mostly related to classic X monosomy
Turner syndrome: state of art
OSTEOPOROSIS affectsa large majority of TS people and isresponsible formorbidity
This seems related both to primary bone defect of mineralization and to estrogen deficiency
Treatment with estrogens and growth hormone improveto maintain peak bone density, but not to normalize(fracture risk 3-fold rather than normal people)
No correlations with karyotype
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Turner syndrome: state of art
HepatitisHigh rate of plasma liver enzymes is a common finding in TS
• Transaminase levels upon normal range in 44%• gamma-GT rises in 47% of subjects• Infections and alcoholic disease excluded
Histological examination on liver biopsies revealed hepatic fibrosis, vascularabnormalities, features as newborn liver and fatty infiltrations. The risk of
progression to CIRRHOSIS is unknown, but this condition seems to be 5-fold the normal population
Protective role against hepaticfailure, and reduction in liver
enzymestransdermal and natural compounds
(E2 valerate)
Rise of serum liver enzymes withconjugated estrogens.
Deterioration of liver function withethinyl-estradiol
Controversial role of estrogens
Psychosocial Development
• Intellectual function: NORMAL in TS • Cognitive function: