Tay-Sachs disease

Also known as: 테이-삭스병 흑내장가족성백치

Doctors who treat Tay-Sachs disease

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Kangbuk Samsung Hospital Yang A-ram

Yang A-ram

Kangbuk Samsung Hospital · Pediatrics

1형 및 2형 당뇨 (인공췌장클리닉), 희귀유전질환 (Turner syndrome, Prader-Willi syndrome, 골이형성증 그외 유전대사질환-성인포함), 리소좀축적질환 (뮤코다당증, 고셔병, 폼페병), 내분비 질환 (성장/사춘기, 소아비만, 갑상선, 부신 및 뇌하수체질환 등)

5.0
Ewha Womans University Mokdong Hospital Park Eun-ae

Park Eun-ae

Ewha Womans University Mokdong Hospital · Pediatrics

미숙아·신생아질환(신생아황달, 호흡곤란 등), 미숙아 추적 관리, 선천 기형, 유전질환

5.0
Inha University Hospital Lee Ji-eun

Lee Ji-eun

Inha University Hospital · Pediatrics

소아유전대사, 내분비대사, 당뇨병, 비만, 성장이상(저신장,성조숙증), 염색체이상, 유전성희귀질환

5.0
Chungnam National University Hospital Lim Han-hyeok

Lim Han-hyeok

Chungnam National University Hospital · Pediatrics

내분비대사질환(당뇨병, 갑상선, 뇌하수체질환, 성분화이상, 비만), 성장이상(저신장, 성조숙증) 유전대사질환클리닉★ 심층진료★

5.0
Seoul National University Bundang Hospital Kim Jae-hyeon

Kim Jae-hyeon

Seoul National University Bundang Hospital · Pediatrics

소아청소년당뇨병, 대사증후군/비만, 고지혈증, 갑상샘질환, 부신질환, 뇌하수체질환, 성장장애, 사춘기질환

4.0
Seoul National University Bundang Hospital Kim Ji-hyeon

Kim Ji-hyeon

Seoul National University Bundang Hospital · Pediatrics

혈뇨, 단백뇨, 유전성 신질환, 알포트 증후군, 요로감염, 수신증, 선천성 신장 요로 기형, 만성 콩팥병, 급성 신손상, 자반증, 신장염, 신증후군, 야뇨증

4.0
Inha University Hospital Kim Su-jin

Kim Su-jin

Inha University Hospital · Pediatrics

유전성대사질환, 사춘기질환, 저신장, 당뇨병, 갑상선 내분비질환, 소아신장질환(혈뇨, 단백뇨, 신증후군, 급/만성 신부전, 선천성 신장질환)

Konyang University Hospital Oh Jun-seok

Oh Jun-seok

Konyang University Hospital · Pediatrics

성조숙증, 저신장, 당뇨, 비만, 갑상선 질환 등 소아내분비 질환, 희귀질환(극희귀질환 진단 의사)

Seoul National University Bundang Hospital Kim Hwa-yeong

Kim Hwa-yeong

Seoul National University Bundang Hospital · Pediatrics

소아청소년당뇨병, 대사증후군/비만, 고지혈증, 갑상샘질환, 부신질환, 뇌하수체질환, 성장장애, 사춘기질환, 희귀유전성질환, 선천성대사이상

Inje University Busan Paik Hospital Lee Bo-ryeon

Lee Bo-ryeon

Inje University Busan Paik Hospital · Pediatrics

소아뇌전증, 경련, 두통, 발달지연, 신경유전질환, 희귀유전질환(신경섬유종, 결절성경화증, 염색체이상, 다발성기형, 저인산혈증구루병), 희귀유전질환클리닉 : 목요일 오후

Disease Description (Causes and Symptoms)

  • Definition and pathophysiology: This is an emergency condition in which the spermatic cord twists, blocking arterial and venous blood flow to the testicle and causing testicular ischemia. The degree of testicular damage is determined by the angle of rotation and the duration of ischemia (generally, within 6 hours is considered the treatment golden window). Congenital factors that increase the risk include bell-clapper deformity (inadequate fixation of the testicle), undescended testicle, and a horizontal testicular position.
  • Main causes: It may be triggered by strenuous exercise, trauma, or sudden changes in position, but in many cases it occurs without any specific trigger. Previous scrotal surgery or testicular tumors may also be associated.
  • Main symptoms: Sudden, severe scrotal (testicular) pain, scrotal swelling, elevation or horizontal positioning of the testicle, nausea and vomiting, lower abdominal pain, and, rarely, urinary frequency or fever. The time of pain onset and its progression are important.

Treatment Methods

  • Urgency: Immediate emergency evaluation and treatment (surgery) are required if testicular torsion is suspected. Even if the diagnosis is not certain, when the possibility of testicular torsion is high, examinations must not be delayed or surgery postponed.
  • Nonsurgical treatment: Manual detorsion by a specialist may be attempted, but it may be temporary, and subsequent surgical fixation (orchiopexy) is always recommended.
  • Surgical treatment: Emergency exploratory surgery is performed to assess for infection and necrosis, followed, when possible, by returning the testicle to its normal position and bilateral orchiopexy. If the testicle is irreversibly necrotic, orchiectomy is performed.
  • Imaging and tests: Color Doppler ultrasonography is useful for assessing blood flow, but surgery must not be delayed because of the examination. A nuclear medicine test (Penile nuclear scan) may also help with diagnosis.
  • Medication and pain management: Analgesics may be administered for pain control, but diagnosis and treatment must not be delayed.
  • Lifestyle and follow-up care: After surgery, protect the scrotum, restrict strenuous exercise, care for the wound, and use follow-up ultrasonography to check testicular blood flow, size, and whether atrophy has occurred. To preserve fertility, consult a urologist if necessary and consider options such as sperm storage.

Checklist Before an Outpatient Visit (Including Sample Questions)

  • Items/records to prepare:
    • Record the time symptoms began (date and exact time) and the course of changes in pain (intensity and pattern)
    • Location of the pain (left/right) and whether there have been similar symptoms in the past (whether they are recurrent)
    • Medications currently being taken (including anticoagulants) and history of allergies
    • History of previous scrotal or testicular surgery (e.g., orchiopexy or hernia surgery) and history of an undescended testicle
    • Recent trauma or exercise, and whether fever, nausea, or vomiting is present
    • Copies of previous test results (ultrasonography, blood tests, etc.)
  • Points to check before the visit:
    • Write down the exact time symptoms began and bring it with you (it is important for treatment decisions).
    • If you have severe pain, visiting the emergency room is recommended (immediate emergency evaluation may be necessary even before an outpatient visit).
  • Sample questions (checklist the patient can give to the doctor):
    • When did the symptoms begin? Is the pain gradually getting worse?
    • What activity were you doing immediately before the pain began (exercise, trauma, etc.)?

General Sample Questions to Ask the Doctor

  • How will this condition affect my fertility (sperm production and ability to conceive)?
  • What is the recovery period after surgery (or treatment), and when can I return to daily activities?
  • What are the possible complications (testicular atrophy, chronic pain, infection, etc.), and how can they be prevented?
  • Are there situations in which conservative treatment can be chosen instead of surgery? What are the criteria?

Condition-Specific Sample Questions

  • My symptoms began X hours ago (for example, 4 hours ago). How likely is it that my testicle can be saved?
  • Why do you recommend bilateral orchiopexy during surgery? Is it not sufficient to fix only one side?

Summary of References/Precautions:

  • Scrotal pain may be an emergency, so if sudden severe pain occurs, visit an emergency room or urology department as soon as possible.
  • Treatment must not be delayed because of imaging tests or analgesics.
  • The timing of treatment has a decisive effect on the prognosis (testicular salvage rate).

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This information is for general understanding only and does not replace diagnosis, prescription or treatment for an individual patient. If you have symptoms, please see a doctor.

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