DSD

Question 1

Sindromul Klinefelter:

Answer 1

1. Cea mai frecventa cauza genetica de hipogonadism masculin (1/400)
2. Disgenezie gonadala a tubilor seminiferi – cariotip 47 XXY
3. Hialinizare + fibroza a tubilor seminiferi –> Azoospermie
4. Anomalii ale celulelor Leydig hipogonadism
   - -> LH crescut —> Secretie crescuta de estrogeni

Question 2

Manifesftari clinice Sindromul Klinefelter:

Answer 2

1. Absenta calvitiei frontale
2. Lipsa pilozitati corporale
3. GINECOMASTIE
4. TESTICULE MICI & DURE
5. EXTREMITATI LUNGI
6. Diam bitrohanterian crescut
7. diam biacromian redus

Question 3

Afect asociate Sd Klinefelter:

Answer 3

1. Afect Ai
2. Cancer mamar
3. Boli tromboembolice
4. Osteoporoza

Question 4

Diagnostic Sd Klinefelter:

Answer 4

1. Test Barr pozitiv
2. Cariotip XXY sau mozaicism
3. Spermograma – azoospermie, infertilitate
4. Testosteron plasmatic scazut sau normal
5. FSH intotdeauna crescut
6. LH crescut sau normal
7. Biopsia testiculara (Hialinizare tub semini)

Question 5

Tratament in Sd klinefelter:

Answer 5

1. Al hipogonadismului – tratament substitutiv
   –.- > Testosteron enantat/cipionat i.m /test undecanoat im
2. Al infertilitatii – ICSI cu material obtinut prin biopsie
   testiculara
3. Al ginecomastiei - chirurgical

Question 6

Sindromul Turner:

Answer 6

1. Disgenezie gonadala 45 X0/ mozaicism
2. sex feminin
   3.Statura mica (haploinsuficienta genei SHOX)+
   infantilism sexual + anomalii somatice

Question 7

Manifestari clinice Sindromul Turner:

Answer 7

1. Infertilitate
2. maini si picioare inflamate
3. Par jos implantat
4. Pubertate incompleta
5. Amenoree
6. Facies: Gura mica ca de peste
7. Metacarp 4 scurta
8. Torace in scot
9. Bolta Ogivala
10. Pterigium coli

Question 8

Alte manifestari clinice in Sd Turner:

Answer 8

1. Habitus si modificari osoase
2. Coarctatie de aorta, bicuspidie aortica, HTA
3. Malformatii renale (rotatii, duplicatii ureterale)
4. Otita medie recurenta
   5.Nevi pigmentari
5. Afectiuni autoimune asociate: DZ, tiroidita
   Hashimoto, poliartrita reumatoida etc.

Question 9

Diagnostic in Sd Turner:

Answer 9

1. Cariotip 45 X0
2. Test Barr negativ
3. Estradiol scazut, gonadotropi crescuti
4. Examen ginecologic: infantilism genital

Question 10

Indicatii efectuare cariotip:

Answer 10

1. Statura mica (< - 2,5 DS)
2. Anomalii somatice sugestive
3. Amenoree primara cu FSH crescut

Question 11

Tratament in Sd Turner:

Answer 11

Obiective: maximizarea inaltimii finale + sexualizarea

1. Tratament cu GH – ideal debut precoce (Inainte de terap estrogenica–> Inchide cartilaj de crestere)
2. Terapia de substitutie hormonala:
   - estrogeni: 12-13 ani, etinilestradiol sau estradiol valerat
   - dupa 1 an sau in stadiul Tanner 4 se adauga un progestativ