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Hypogonadism
- 1. HYPOGONADISM SHORT REVIEW KLINFELTER SYNDROME KALLMAN SYNDROME NOONAS SYNDROME
- 2. Definition Male hypogonadism is a clinical syndrome caused by androgen deficiency which may adversely affect multiple organ functions and quality of life.
- 3. TYPES OF HYPOGONADISM 1. SECONDARY = LINK WITH PITUATRY 2. PRIMARY= LINK WITH TESTICLES
- 6. History of Klinefelter Syndrome • It was first indentified in 1942. By the late 1950s, the cause of Klinefelter syndrome was discovered. In 1942, Dr. Harry Klinefelter and his coworkers at the Massachusetts General Hospital in Boston published a report about 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. By the late 1950s, researchers discovered that men with Klinefelter syndrome
- 7. Klinefelter syndrome • Individuals with Klinefelter syndrome have at least two X chromosome s and at least one Y chromosome. (XXY)
- 8. Epidemiology 1-2 subjects every 1000 males in the general population • 3.1 % of infertile males have Klinefelter syndrome • The prevalence of the syndrome has increased over the past decades (according to a meta-analysis) • However, this does not appear to be correlated with the increase of the age of the mother at conception
- 9. Signs and symptoms Babies: • Weak muscles • Slow motor development — taking longer than average to sit up, crawl and walk • Delay in speaking • Quiet, docile personality • Problems at birth, such as testicles that haven't descended into the scrotum
- 10. • Enlarged breast tissue (gynecomastia) • Weak bones • Low energy levels • Shyness • Difficulty expressing feelings or socializing • Problems with reading, writing, spelling or math • Attention problems • Taller than average stature • Longer legs, shorter torso and broader hips compared with other boys • Absent, delayed or incomplete puberty • After puberty, less muscular bodies and less facial and body hair compared with other teens • Small, firm testicles • Small penis Boys and teenagers
- 11. Mensymptoms • Weak bones • Decreased facial and body hair • Enlarged breast tissue • Decreased sex drive or sexual problems • Infertility • Small testicles and penis • Taller than average stature
- 14. Blood test: Blood test called a karyotype and is the standard diagnostic method Test looks at a person's chromosomes Prenatal Testing: many males have been diagnosed through amniocentesis or chorionic villus sampling (CVS) • In amniocentesis, a sample of the fluid surrounding the fetus is withdrawn • CVS is similar to amniocentesis. The procedure is done in the first trimester (during the fist three month of pregnancy, it’s important to establish a foundation of good health) and the fetal cells needed for examination are taken from the placenta
- 15. Treatment Testosterone treatment should begin at puberty: can normalize body proportions and promote development of normal secondary sex characteristics but does not treat infertility, gynecomastia and small testes By 2010 over 100 successful pregnancies have been reported using IVF (In vitro fertilization) technology with surgically removed sperm material from men with Klinefelter syndrome The results of a study on 87 Australian adults with the syndrome shows: • Who have had a diagnosis and appropriate treatment from a very young age had a significant benefit with respect to those who had been diagnosed in adulthood
- 16. Gynecomastia Photo of male with severe asymmetrical gynecomastia, followed by a photo of the same male after a liposuction procedure
- 17. Noonan Syndrome Recognized by Dr. Jacqadine Noonan in 1963 Definition It is a genetic disorder that causes abnormal development of multiple parts of the body. It is characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, and skeletal malformations
- 18. Epidemology 1 in 1000 to 2500 people Male and females are equally affected Causes Both sporadic and autosomal dominant causes identified. PTPN II,SOS I,RAF .I,KRAS mutations
- 19. Clinical Features Webbing and short appearance of the neck Sunken chest Facial abnormalities Wide spaced eyes Congenital Heart Disease Coagulation defects Delayed puberty MR Short stature
- 20. Webbed Neck
- 22. Investigations Genetic testing ECG, ECHO Hearing test Assessment of development Complications Low self esteem Abnormal heart structure Male infertility Social difficulty relate to physical abnormality Fluid accumilation in tissues Short stature
- 23. Prevention Couples with genetic history can have genetic counseling before having children.
- 24. Kallmann's Syndrome Congenital hormonal conditioncharacterized by thefailureofan individual toenterpuberty. Itis aHypogonadotrophic Hypogonadism (HH).In particularitis afailure of communication between thehypothalamus andtheanterior pituitarygland. Itresults in thesex organs or gonads (testes orovaries) notmaturing intheusual manner during puberty. Itoccurswhen the hypothalamic neurons thatareresponsible for releasing gonadotropin-releasing hormone (GnRH neurons) failtomigrate intothehypothalamus during embryonic development. Kallmann syndrome also features theadditional symptom of analteredsense of smell either completely absent (anosmia) orhighly reduced (hyposmia).The sense ofsmell isonly affected in approximately 50%of HHcases andthesecases are termedKallmann syndrome.
- 25. SIGNSANDSYMPTOMS REPRODUCTIVEFEATURES Failuretostartorfullycompletepubertyin both menandwomen Lackoftesticledevelopmentinmen;size<3 cm3. Thenormalrangeisbetween12and30cm3 Primaryamenorrheaorfailuretostart menstruation inwomen Poorlydefinedsecondarysexual characteristicsin bothmenandwomen. Infertility NONREPRODUCTIVEFEATURES Cleftpalateorothercraniofacialdefects. Unilateralrenalagenesisoraplasia;absence ornonfunctioning ofoneofthekidneys Cryptorchidismun-descendedtesticlesat birth, occursin30%ofKS/HHcases Micropenisoccursinfewerthan5to10%of KS/HH cases. Neuralhearingdefects Synkinesisormirrormovementsofhands
- 27. Genes that have been associated with causing casesofKS KAL1=KAL1 KAL2=FGFR1 KAL3=PROKR2-mutationsinthe prokineticin receptor2 gene,variousdegreesofolfactoryandreproductive dysfunction. GnRH1=GnRH1 TAC3-Signallingpeptide,crucialfor GnRHsecretion, highincidenceof micropenis LEP-LigandforthereceptorLRPR.Involvedinpulsatile GnRHsecretion. FGF8-Fibroblastgrowthfactor8,Associatedwithcleft lipand/orpalateandhearingloss
- 28. TREATMENT 1)Hormonereplacementtherapy Atfirstthetreatment willproduce mostofthe physicaland psychologicalchangesseenat puberty,with themajorexceptionthat therewillbeno testicular developmentinmenandnoovulation in women. Aftertheoptimumphysicaldevelopmenthas been reachedHRTformenwillcontinue toensure that the normal androgen function ismaintained; suchas libido, muscledevelopment,energylevels,hairgrowth,and sexualfunction. Inwomen,avariety oftypesofHRTwilleithergivea menstruation cycleornotaspreferredbythepatient. HRTisveryimportant inbothmenand womento maintain bonedensityand toreducetheriskofearly onsetosteoporosis.
- 30. 2)Fertilitytreatments Fertilitytreatmentsinvolvetheadministrationofthe gonadotropinsLHandFSHinordertostimulatethe productionandreleaseofeggsandsperm.Womenwith KSorHHhaveanadvantageoverthemenastheir ovariesnormallycontainanormalnumberofeggsandit sometimesonlytakesafewmonthsoftreatmentto achievefertilitywhileitcantakemalesupto2yearsof treatmenttoachievefertility. Humanchorionicgonadotropin(hCG)issometimes usedtostimulatetestosteroneproductioninmenand ovulationinductioninwomen.Formenitactsinthe samewayasLH;stimulatingthe Leydigcellsinthetestes toproducetestosterone.CommontradenamesforhCG productsincludePregnyl,Follutein,Profasi,or Choragon Human menopausal gonadotropin (hMG) isusedto stimulatespermproduction inmenandformultiple egg production andovulationinductioninwomen.It containsa mixtureofbothLHandFSH.InmentheFSH actsonthespermproducing Sertolicellsinthetestes. Thiscanleadtotesticularenlargementbutcantake anything from6monthsto2yearsforanadequatelevel ofspermproduction tobeachieved.Commontrade namesforhMG products includeMenopur, Menogon, Repronex,orPergonal.
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