Ubuzima
Harry Cretefelter numuganga w'Abanyamerika ufite ubushakashatsi bwakozwe mu murima wa endocrinologio na rheumatology. Muganga yashakaga tekiniki yubuvuzi yafasha gutsinda ubusinzi, maze aba mubyavuzwe mu gutandukana kwigaragambya kubera guhuza bidasanzwe kwa chromosomes mumubiri wumuntu. Indwara yiswe Klinfelter Syndrome.Mu bwana n'urubyiruko
Harry yavutse ku ya 20 Werurwe 1912 mu mujyi wa Baltimore, uherereye muri Maryland. Ababyeyi ba Harry na Elizabeth Clanfelter bareze abandi bana batatu. Ubuvuzi buzaza bwakiriwe neza. Mu 1937, yabaye umunyeshuri murangije Jones Hopkins mu mujyi yavukiyemo.
Imyitozo yubuvuzi Klanfelter Jr. yatangiye mu 1941 nkumufasha wuzuye albright. Mu myaka ibiri, umusore yakoraga mu ivuriro rya Massachusetts.
Kuva mu 1943 kugeza 1946, Harry yakoraga mu gisirikare, hanyuma asubira i Baltimore, aho yakoraga akazi ko kuvura abarwayi ku bw'umwirondoro. Yigishije mu ishuri ry'ubuvuzi, ndetse n'ubushakashatsi bwakozwe mu rwego rw'amazukwa na endocrinology.
Ubuzima Bwihariye
Harry Klinfelter yagize uruhare runini mugusobanura indwara ziterwa na geneti itateganijwe, ariko izwi gato kubyerekeye ubuzima bwa muganga. Ibyishimo mubuzima bwite Umuhanga wasanze mubukwe na Elaine Klanfelter. Ubukwe bwabaye mu 1943 muri Missouri. Elaine yari kavukire y'ibice. Umugore yahaye Harry abana batatu.Umwuga
Gutangira kwiga gutandukana bidasanzwe hamwe na Endocrinolog Fuller Fuller Albright Inyuma mu 1941, Creignferter yateguye itsinda ryibanze ryabagabo icyenda. Isesengura ryafashwe mubarwayi berekanye gutandukana. Muri bo, Gynecodiastia, Spermatogenes hamwe n'ijwi rirenze urugero ry'abashitsi b'amasetse.
Muganga yavuze ko icyateye iyi ndwara ari indwara ya endocrine, ariko yamaze mu 1959 uru rubanza rwahise ruhinduka kurenga. Impamvu zitera gutandukana kuva icyo gihe ntizifatwa nka hormonal, ariko chromosomes.
Mu bimenyetso bya syndrome, yize umugani, ni ubunini bw'inzoka. Mu 1942, ibi n'ibindi bimenyetso by'indwara za Medi bisobanuwe mu ngingo yo "jomecrinology ya clinical". Duhereye kuri iyi ngingo, indwara yatangiye kwitwa Umushakashatsi.
Nk'uko muganga, byashobokaga kumenya syndrome mu cyiciro cya mbere. Mu bugenzuzi, bufite abahungu, yavuze ibiranga physiologiya yabo. Kenshi na kenshi, indwara yabonetse mu basore bakuru bafite ibiranga ibitsina bisanzwe hamwe nubusanzwe imikorere yimibonano mpuzabitsina. Nyuma yaho, byagaragaye ko GyneContausIYA idahora ihinduka ibimenyetso biherekeza kuri Syndrome ya Clanferter.
Nyuma yimyaka 14 nyuma yubushakashatsi bwa mbere, byagaragaye ko abarwayi bafite ikibazo cya endocrine cyari gifite chromosomes 47. Basanze inyongera ya x, cyangwa uruganda ruhuza Xxy rwari ruhari. Ibisanzwe ni chromosome imwe imwe cyangwa ubundi bwoko. Rero, umubare muto wa karyotypes ugaragara, utandukanye cyane. CHromaTIN nziza kandi bivuga umubare wibimenyetso byagaragaye mu gusuzuma syndrome ya Clanefelth. Abarwayi bafite isuzuma nkiryo rifite ubugumba.
Indwara yamenyekanye na Harry Cretefelter ishyirwa kurutonde rwa genetics zizwi. Pathology igira ingaruka kuri 0.2% byabagabo ku isi. Byongeye kandi, iyi ndwara ya endocrine ifatwa nkinshimwa nyuma ya diyabete no guhinduranya imitekerereze ya tiroyide.
Mutation yatewe ubwoba na Syndrome ntabwo yarazwe, niba rero mumuryango hamwe no gusuzuma, ntibishoboka ko bigaragara. Ni gake cyane ufite ibimenyetso bigaragara. Nubwo abarwayi bamwe banze ubugari bwikibuno, umusatsi muto kumubiri nigituza cyagutse. Mubibazo bidasanzwe, ibibazo byo kwiga cyangwa imvugo biragaragara. Kumenya ko hariho indwara mubana cyangwa impinja zidashoboka, nkuko zigaragarira mugihe cyubwangavu. Ariko hariho amahirwe yo kwipimisha burundu kugeza umwana abonekeye urumuri.
Harry Clainfelter yasabye kuneka kuvura umurego wa Testosterone, bigira uruhare mu iterambere ry'imibonano mpuzabitsina. Iyo ikoreshwa mugihe cyubwangavu, impirimbanyi irashobora kugerwaho kandi izana umubiri mu iterambere risanzwe. Ntibishoboka gukiza indwara kugeza imperuka, kubera ko ibanga rya genetike ridasubirwaho. Ariko gabanya ibimenyetso kandi ukize umuntu ukomoka mubibazo bishoboka. Imbere y'isuzuma nk'iryo, kubera gusama, bahabwa ifumbire.
Urupfu
Harry Klinfelter yapfuye ku ya 20 Gashyantare 1990. Impamvu y'urupfu rw'umuganga ntabwo rutangazwa, ariko birashoboka ko yari afitanye isano n'ubusaza bwumugabo wapfuye afite imyaka 77. Umaze kubaha umwuga wo kwiga umwe mu baganduwe ku buryo buzwi cyane mu buryo bw'ibigo byatanzwe mu kinyejana cya 20, muganga yagize uruhare runini mu iterambere ry'ubumenyi. Uyu munsi, ifoto yumubare wa endocrinologue itangaza mubitabo bya kaminuza.