Ọrịa Klinefelter

Ọrịa Klinefelter bụ mkpụrụ ndụ ihe nketa nke na-eme n’ime ụmụ nwoke mgbe ha nwere chromosome ọzọ.

Ọtụtụ mmadụ nwere kromosome iri anọ na isii. Chromosomes nwere mkpụrụ ndụ ihe nketa gị niile na DNA, mgbidi ụlọ nke ahụ. The chromosomes nke nwoke na nwanyị (X na Y) na-ekpebi ma ị ga-abụ nwa nwoke ma ọ bụ nwa agbọghọ. Normallymụ agbọghọ nwere 2 chromosomes X. Ysmụ nwoke nwere 1 X na 1 Y chromosome.

Ọrịa Klinefelter na-apụta mgbe a mụrụ nwa nwoke ma ọ dịkarịa ala 1 extra X chromosome. Edere ihe a dika XXY.

Ọrịa Klinefelter na-eme n’ihe dị ka 1 n’ime ụmụaka 500 ruo 1,000 ụmụ nwoke. Womenmụ nwanyị ndị na-atụrụ ime mgbe ha gbara afọ 35 nwere ike nwee obere nwa nwoke nwere nsogbu a karịa ụmụ agbọghọ.

Infertility bụ ihe mgbaàmà kachasị nke ọrịa Klinefelter.

Mgbaàmà nwere ike ịgụnye nke ọ bụla n'ime ihe ndị a:

• Ọdịdị na-adịghị ahụkebe (ụkwụ ogologo, mkpụmkpụ dị mkpụmkpụ, ubu hà nha hip)
• Ndị ara buru ibu (gynecomastia)
• Enweghi ike
• Nsogbu mmekọahụ
• Ihe na-erughị ọnụ ọgụgụ nke pubic, akpa abu, na ntutu ihu
• Obere, siri ike testicles
• Ogologo ogologo
• Obere amụ amụ
  
  

A pụrụ ịchọpụta ọrịa ọrịa Klinefelter na mbụ mgbe mmadụ bịara na nlekọta ahụike n'ihi enweghị ike. Enwere ike ịme ule ndị a:

• Karyotyping (na-enyocha chromosomes)
• Mkpụrụ mmanụ

A ga-anwale ule ọbara iji chọpụta ogo nke hormone, gụnyere:

• Estradiol, ụdị estrogen
• Follicle na-akpali akpali hormone
• Na-edozi hormone
• Testosterone

Enwere ike ịnye ọgwụgwọ Testosterone. Nke a nwere ike inyere aka:

• Too ntutu
• Mee ka akwara dịkwuo mma
• Mee ka uche gị dịkwuo mma
• Mee ka ọnọdụ na ịdị mma nke onwe gị ka mma
• Mee ka ike na inwe mmekọahụ dịkwuo elu
• Dịkwuo ike

Imirikiti ụmụ nwoke nwere ọrịa a enweghị ike ime nwanyị ime. Ọkachamara infertility nwere ike inye aka. Ga dọkịta nke akpọrọ endocrinologist nwekwara ike inye aka.

Ebe ndị a nwere ike ịnyekwu ozi na ọrịa Klinefelter:

• Association for X na Y Chromosome ọdịiche - genetic.org
• Librarylọ Ọgwụ Na-ahụ Maka Ọgwụ nke Mba, Ntugharị etlọ Jenetik - medlineplus.gov/klinefelterssyndrome.html

Ezé buru ibu nke na-eme ka ụwa dịkwuo njọ na ọrịa Klinefelter. A na-akpọ nke a taurodontism. Enwere ike ịhụ nke a na ụzarị ọkụ ezé.

Ọrịa Klinefelter na-emekwa ka ohere nke:

• Ntị adịghị ike ọrịa ọrịa (ADHD)
• Ọrịa autoimmune, dị ka lupus, ọrịa ogbu na nkwonkwo, na ọrịa Sjögren
• Ọrịa ara ure ụmụ nwoke
• Nsogbu
• Nkwarụ mmụta, tinyere nsogbu, nke metụtara ịgụ
• Raredị etuto a na-adịghị ahụkebe nke a na-akpọ tumọ cell extragonadal jeerm cell
• Ọrịa akpa ume
• Osteoporosis
• Mgbanwe dị iche iche

Kpọtụrụ onye na-ahụ maka ọrụ gị ma ọ bụrụ na nwa gị nwoke amaliteghị inwe mmekọahụ mgbe ọ na-eto eto. Nke a na-agụnye uto ntutu ihu na mmụba nke olu.

Onye ndụmọdụ banyere mkpụrụ ndụ ihe nketa nwere ike inye ihe ọmụma banyere ọnọdụ a ma duzie gị ịkwado otu dị iche iche nọ n'ógbè gị.

Ọrịa 47 X-X-Y; Ọrịa XXY; XXY trisomy; 47, XXY / 46, XY; Ọrịa Mosaic; Ọrịa Poly-X Klinefelter

Allan CA, McLachlan RI. Nsogbu nke Androgen. Na: Jameson JL, De Groot LJ, de Kretser DM, et al, ndị ọzọ. Endocrinology: Okenye na Ọrịa edimụaka. Nke 7. Philadelphia, PA: Elsevier Saunders; 2016: isi 139.

Matsumoto AM, Anawalt BD, Nsogbu testicular. Na: Melmed S, Auchus, RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Akwụkwọ ọgụgụ Williams nke Endocrinology. Nke iri na anọ. Philadelphia, PA: Elsevier; 2020: isi 19.

Nussbaum RL, McInnes RR, Willard HF. Na chromosomal na genomic ndabere nke oria: nsogbu nke autosomes na chromosomes nke nwoke. Na: Nussbaum RL, McInnes RR, Willard HF, ndị ọzọ. Thompson & Thompson Genetics na ogwu. 8th ed. Philadelphia, PA: Elsevier; 2016: isi 6.