你也可以直接上協會查：http://www.turnersyndrome.org/
Turner's Syndrome 特納氏症或是透那氏症，端粒綜合症，也稱為性腺發育不良或先天卵巢發育不良，是一種先天性的染色體異常疾病，是由性染色體全部或部分缺失引起的（正常人有46個染色體，其中2個是性染色體）。一般女性有2個X染色體，但Turner綜合征患者的性染色體缺失或有其他異常。在某些情況下，有些細胞中有缺失的染色體，而了一些沒有，這稱為嵌合體（mosaicism）。
簡單的說，就是一條或局部的「X染色體」缺乏，女性患者只有一條「X染色體」和染色體數目亦只有45條，它發生於二仟份一的女性，其成因是由母親的卵子或父親的精子變異而引致。正常人類的染色體為46,XX或是46,XY，若少了一條性染色體X或Y，形成45,X就是所謂的特納氏症。
在女孩中該疾病的患病率是1/2500。臨床病徵包括身材矮小、手腳淋巴水腫、寬胸闊乳、低髮際、頸蹼。 患病女孩通常出現性腺功能不全（卵巢無功能），從而導致閉經 （沒有月經）和不育。也經常出現隨之而的其他健康問題，包括先天性心臟病、甲狀腺功能低下症、糖尿病、視力問題、聽力問題和許多其他自身免疫性疾病。此外，還觀察到有患者存在視覺空間、數學和記憶方面困難等認知缺陷。
由來
1938 年由 Turner 醫師第一次描述，將身材矮小、幼稚型性徵（第二性徵不明顯）、蹼狀頸與肘外翻的婦女稱之為透納氏症（Turner syndrome）。到 1959 年，Ford 證實，透納氏症的病人缺少一條 X 染色體，因此其細胞核型為（45, X），百分之 99% 的（45, X）胚胎會流產，但若活產就會變成透納氏症。發生率約為每三千個活產女嬰有一個。一般透納氏症的發生為偶發事件，下一胎再發生的風險並不會增加。不過有少數的例外，包括遺傳性 X 染色體結構之變異，或者遺傳性的鑲嵌染色體（mosaicism）者。
除了典型的（45, X）透納氏症之外，也有所謂的變異型存在。這些變異型是具有性染色體構造異常，或者鑲嵌型的病人。這些變異型包括：
（45, X/ 46, XX）、（45, X/ 47, XXX）、（45, X/ 46, XX/47, XXX）鑲嵌型：這些病人的身高較高，透納氏症外型異常較不明顯，且可能具有生殖能力。
（46, X, i(Xq)）、（45, X/ 46, X, i(Xq)）：isochromosome Xq 約佔 15%，身材矮、性線發育不良及外型異常比（45, X）為輕，常出現自體免疫疾病。
（46, X, r(X)）、（45, X/ 46, X, r(X)）：ring X 的患者身材矮小，臨床表徵很輕微，三分之一有月經與第二性徵發育及智能不足。（典型則通常智力正常。）
（46, XXp-）、（45, X/ 46, XXp-）：Xp-（proximal to Xp21）：性腺發育不良，身材矮小。
（46, XXq-）、（45, X/ 46, XXq-）：正常身高或矮小，性腺發育不良。
（45, X/ 46, XY）、（45, X/ 47, XXY）：有不同的表型，包括女性、生殖器官混淆、男性皆有，容易罹患生殖母細胞瘤（gonadoblastomas）。在（45, X/ 46, XY）核型的患者，通常外觀表現為健康的男嬰，但不代表日後不會有問題，因此仍必須定期追蹤。
X-autosome translocation：Xq13-q26 為卵巢發育極重要之區域，若斷裂在 Xq13-q22 及 Xq22-q27 將造成性腺發育不良。
那些婦女需要做細胞染色體核型分析檢查?
(1) 不論年齡，不論有無出現其他的Turner’s綜合徵的表現，只要是身高排在（落在）同年齡的後十分之一或低於同年齡的標準線以下，則可做染色體核型分析檢查看看。
(2) 任何生育年齡婦女，以前沒有做過卵巢切除手術或卵巢電燒手術，如果檢測出腦下垂體促性腺賀爾蒙FSH（濾泡刺激賀爾蒙）偏高，尤其是身高少於155公分的女性則需要做細胞染色體分析檢查。
(3) 生育年齡婦女尤其是年齡小於35歲的婦女，如果以前沒有做過卵巢手術，但是陰道超音波檢查發現卵巢濾泡數偏少，可考慮做細胞染色體核型分析檢查。
(4) 本來應發生在男性的性聯遺傳疾病卻發生在女性，就要考慮這位女生染色體是否為45X，則需要做細胞染色體核型分析檢查來確定。
討論 ：
在嵌合型（mosaic）Turner’s Syndrome（如45X / 46XX）的病人，其症狀比純形（pure 45,X）來得輕。一般說來，這些病人他們的智力、認知力及學習能力和常人無異。
n 這三位嵌合型病患都有不孕的問題。她們的卵巢功能較差，卵巢內的卵子較少，懷孕也比較容易流產。
n 如果病患45X細胞所佔的比例較高，出現Turner’s syndrome的徵候也越多，異常也越嚴重。例如：案例3，其身材也最矮（140公分），卵巢功能也最差。
n 對於純型Turner’s Syndrome（45,X）病人宜及早診斷及治療，對於嵌合型Turner’s Syndrome也不例外。例如：身高成長低於正常人，可及早投予Growth Hormone，有時可合併anabolic hormone（oxandrolone），例如案例\ 3的病人。有一文獻報告，在7-13歲平均治療5-7年，平均可增加身高7.2公分。
n Turner’s Syndrome患者如果到13~15歲還沒有出現第二性徵，可開始投予低劑量的雌激素，此劑量可慢慢增加。
n 這些病人的生育期（reproductive life）較短，對於已婚的患者，應鼓勵她們儘快懷孕並及早作介入性的治療，例如人工授精或試管嬰兒等。如果未婚，但年紀已到適婚年齡，可考慮卵子冷凍。如果真的沒有卵子，又想懷孕的話，可考慮利用他人捐贈卵子受孕。這些病人都會發生早發性停經。
Management of Turner's syndrome: gonadal dysgenesis; growth failure; skeletal dysgenesis
|
Characteristic |
Neonatal period or at diagnosis |
Childhood |
Adolescence |
Adulthood |
|
Gonadal dysgenesis |
Look for mosaicism. Look for Y-chromosome material if marker chromosome or virilization is present. |
Discuss reproductive options when appropriate |
Check follicle-stimulating hormone and luteinizing hormone before initiating hormone-replacement therapy around 12 years of age. Begin therapy with low doses of estradiol, and gradually increase during the next two to four years. |
Continue hormone replacement |
|
Growth failure |
Plot growth on growth curve specific for those with Turner's syndrome. |
Continue to monitor growth. Check thyroxine and thyrotropin levels. Check for obesity. Institute dietary counseling. Start growth horomone therapy with or without anabolic steroid when growth velocity declines. |
Stop growth hormone when bone age exceeds 15 yr or growth velocity drops below 2 cm/yr. |
Check thyroxine and thyrotropin levels. Check thyroid antibodies every 3 to 5 years. Continue dietary counseling. |
|
Skeletal dysgenesis |
Check for dislocated hips. |
Watch for scoliosis. Watch knee for tibial problems. |
Watch for scoliosis, lordosis, and kyphosis. |
Ensure adequate calcium intake (1.2 g/day). Encourage weight-bearing exercise. Check bone mineral density every 3 to 5 years. |
Management of Turner's syndrome: craniofacial malformation; abnormal carbohydrate metabolism; cardiovascular abnormalities
|
Characteristic |
Neonatal period or at diagnosis |
Childhood |
Adolescence |
Adulthood |
|
Craniofacial malformation |
Otitis and high arched palate are common. |
Otitis is common and should be treated
aggressively. |
Continue to monitor hearing. |
Continue to monitor hearing. |
|
Abnormal carbohydrate metabolism |
— |
Glucose-tolerance test may be abnormal. |
Glucose-tolerance test may be abnormal. |
Annual fasting glucose and lipid profile. |
Management of Turner's syndrome: genitourinary abnormalities; skin problems; central nervous system abnormalities; and other problems
|
Characteristic |
Neonatal period or at diagnosis |
Childhood |
Adolescence |
Adulthood |
|
Genitourinary abnormalities |
Perform renal ultrasonography to rule out structural anomalies. If present, screen yearly for urinary tract infection. |
Continue to monitor for urinary tract infection, if necessary. |
Continue to monitor for urinary tract infection, if necessary. |
Continue to monitor for urinary tract infection, if necessary. Perform urinalysis annually. |
|
Skin problems |
- |
Remove multiple nevi only if in area where rubbed by clothing. Warn patients to avoid unnecessary surgery because of keloid formation. |
Remove multiple nevi only if in area where rubbed by clothing. Warn patients to avoid unnecessary surgery because of keloid formation. |
Remove multiple nevi only if in area where rubbed by clothing. Warn patients to avoid unnecessary surgery because of keloid formation. |
|
Central nervous system abnormalities |
Refer to developmental intervention program if indicated. |
Screen for intellectual functioning, visuospatial organization. Attention deficit disorder may be more frequent. IQ is generally normal. |
Screen for intellectual functioning, visuospatial organization. Attention deficit disorder may be more frequent. IQ is generally normal. |
Screen for intellectual functioning, visuospatial organization. Attention deficit disorder may be more frequent. IQ is generally normal. |
|
Ophthalmologic abnormalities |
Perform ophthalmologic evaluation. |
Continue to monitor ophthalmologic examination. |
Continue to monitor ophthalmologic examination. |
Continue to monitor ophthalmologic examination. |
|
Other problems |
Perform stool guaiac test to check for gastrointestinal bleeding. Monitor for feeding problems. |
Perform stool guaiac test to check for gastrointestinal bleeding. |
Watch for anorexia nervosa and inflammatory bowel disease. |
Watch for anorexia nervosa and inflammatory bowel disease. Measure LFT, GGT annually. |
Ovarian hormone replacement treatment in TS
|
Age, yr |
Age-specific suggestions |
Comments |
|
10-11 |
Monitor for spontaneous puberty by Tanner staging and FSH level |
Low-dose estrogen treatment may not inhibit GH-enhanced growth in stature |
|
12-13 |
If no spontaneous development and FSH elevated, begin low dose E2 |
Equivalent initial E2 doses: depot (im) E2, 0.2-0.4 mg/month; transdermal E2, 6.25 µg daily*; micronized E2, 0.25 mg daily by mouth |
|
12.5-15 |
Gradually increase E2 dose over about 2 yr (eg, 14, 25, 37, 50, 75, 100, 200 µg daily via patch) to adult dose |
Usual adult daily dose is 100-200 µg transdermal E2, 2-4 mg micronized E2, 20 µg EE2, 1.25-2.5 mg CEE |
|
14-16 |
Begin cyclic progesterone treatment after 2 yr of estrogen or when breakthrough bleeding occurs |
Oral micronized progesterone best option at present; usual adult dose is 200 mg/d on d 20-30 of monthly cycle or d 100-120 of 3-month cycle |
|
14-30 |
Continue full doses at least until age 30 because normally estrogen levels are highest between age 15 and 30 yr |
Some women may prefer using oral or transdermal contraceptive for HRT; monitor endometrial thickness |
|
30-50 |
The lowest estrogen dose providing full protection vs. osteoporosis is 0.625 CEE or equivalent |
Monitor osteoporosis risk factors, diet, exercise; obtain BMD and begin regular screening mammography by age 45 yr |
|
>50 |
Decision on estrogen use based on same considerations as for other postmenopausal women |
New HRT options are appearing, and these recommendations may need updating in near future |
CEE: conjugated equine estrogens; E2: estradiol;
EE2: ethinyl estradiol; HRT: hormone replacement treatment.
* The lowest-dose commercially available E2 transdermal patches deliver 14 and
25 µg daily; it is not established whether various means of dose fractionation
(eg, administering a quarter patch overnight or daily or administering whole
patches for 7-10 d per month) are equivalent.
Reproduced with permission from: Bondy, CA; Turner Syndrome Study Group. Care of girls and women with Turner Syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007; 92:8. Copyright © 2007 The Endocrine Society.
另外，只有在確診是特納氏綜合症，卵巢功能完全衰竭之情況下，服用雌激素(即動情激素)有助於長胸，即使您已36歲，雌激素應該還有機會讓胸部長大。
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