ライフサイエンスコーパス: congenital adrenal hyperplasia

1 adrenal rest tumors (TART) in patients with congenital adrenal hyperplasia.

2 ture, thereby enhancing our understanding of congenital adrenal hyperplasia.

3 tumors found primarily in male patients with congenital adrenal hyperplasia.

4 reased intracranial pressure, a diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficienc

5 ts for approximately 95% of individuals with congenital adrenal hyperplasia, a common autosomal reces

6 olved in approximately 95% of cases of human congenital adrenal hyperplasia, a disorder of adrenal st

7 -hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive d

8 assay in 8 (21 percent) of the patients with congenital adrenal hyperplasia and in 19 (95 percent) of

9 e synthase deficiency, salt-wasting forms of congenital adrenal hyperplasia, and adrenal hypoplasia c

10 emorogluteal lipodystrophy and non classical congenital adrenal hyperplasia, and an essential splice

11 lla have been shown in patients with classic congenital adrenal hyperplasia, and the degree of adreno

12 and currently accepted medical management of congenital adrenal hyperplasia are described.

13 trated on two inherited endocrine disorders, congenital adrenal hyperplasia (CAH) and apparent minera

14 ent therapy is the mainstay of treatment for congenital adrenal hyperplasia (CAH) but has a narrow th

15 Congenital adrenal hyperplasia (CAH) due to deficiency o

16 ned the rationale for neonatal screening for congenital adrenal hyperplasia (CAH) owing to low sensit

17 been screened for 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) worldwide.

18 mmon cause of female genital virilization is congenital adrenal hyperplasia (CAH), in which excess an

19 Congenital adrenal hyperplasia (CAH), resulting from mut

20 found in inadequately treated patients with congenital adrenal hyperplasia (CAH).

21 ilities in adolescents and young adults with congenital adrenal hyperplasia (CAH).

22 More than 100 CYP21A2 variants give rise to congenital adrenal hyperplasia (CAH).

23 we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase

24 sue is often found in the testes of men with congenital adrenal hyperplasia; characteristic clinical

25 nd cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include te

26 Congenital adrenal hyperplasia compromises both the deve

27 Congenital adrenal hyperplasia describes a group of inhe

28 excessive levels of androgens, as occurs in congenital adrenal hyperplasia due to 21-hydroxylase def

29 and plasma metanephrines in 38 children with congenital adrenal hyperplasia due to 21-hydroxylase def

30 and specific mutations causing many cases of congenital adrenal hyperplasia have been identified.

31 Although results for surgery for congenital adrenal hyperplasia have been less than satis

32 s have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy i

33 Challenges in the treatment of congenital adrenal hyperplasia include avoidance of gluc

34 The management of congenital adrenal hyperplasia involves suppression of a

35 Congenital adrenal hyperplasia is a family of inborn err

36 Congenital adrenal hyperplasia is a group of autosomal r

37 Molecular pathogenesis of this form of congenital adrenal hyperplasia is caused by mutations in

38 Management of adolescents with congenital adrenal hyperplasia is especially challenging

39 ure and function are normal in patients with congenital adrenal hyperplasia is not known.

40 roxylase deficiency, the most common type of congenital adrenal hyperplasia, is in place in many coun

41 are expected to be elevated in patients with congenital adrenal hyperplasia; it is unknown whether pa

42 n animal model for the human disorder lipoid congenital adrenal hyperplasia (lipoid CAH), we used tar

43 Women with congenital adrenal hyperplasia often develop the polycys

44 es of the RCCX structures in 22 salt-losing, congenital adrenal hyperplasia patients revealed a signi

45 In the group of patients with congenital adrenal hyperplasia, plasma epinephrine and m

46 ld include education of females with classic congenital adrenal hyperplasia regarding their genital a

47 Patients with non-classic congenital adrenal hyperplasia require reassessment rega

48 40 to 80 percent lower in the patients with congenital adrenal hyperplasia than in the normal subjec

49 nt mutant of StAR (A218V) that causes lipoid congenital adrenal hyperplasia was incorporated into the

50 In a patient with congenital adrenal hyperplasia, we discovered a TNXB-TNX

51 ions of CYP21A2, the disease-causing gene in congenital adrenal hyperplasia, we now provide a full st

52 Material/Forty-one patients with congenital adrenal hyperplasia were evaluated by gray-sc

53 In three patients with congenital adrenal hyperplasia who had undergone bilater

54 nvestigate the underlying molecular basis of congenital adrenal hyperplasia with apparent combined P4

55 Congenital adrenal hyperplasia with apparent combined P4