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

1 t is in clinical trials for the treatment of congenital adrenal hyperplasia.

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

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

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

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

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

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

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

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

10 m Tubingen from patients with Short Stature, Congenital Adrenal Hyperplasia and Precocious Puberty.

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

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

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

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

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

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

17 Children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxyla

18 Congenital adrenal hyperplasia (CAH) due to deficiency o

19 Congenital Adrenal Hyperplasia (CAH) is a group of genet

20 ients with classic 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) is treated with glu

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

22 Treatment for congenital adrenal hyperplasia (CAH) was introduced in t

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

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

25 Congenital adrenal hyperplasia (CAH), resulting from mut

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

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

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

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

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

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

32 Congenital adrenal hyperplasia compromises both the deve

33 Congenital adrenal hyperplasia describes a group of inhe

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

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

36 Congenital adrenal hyperplasia due to P450 oxidoreductas

37 e prenatal virilization of girls affected by congenital adrenal hyperplasia due to P450 oxidoreductas

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

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

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

41 l range of human STAR mutation-driven lipoid congenital adrenal hyperplasia in patients.

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

43 The management of congenital adrenal hyperplasia involves suppression of a

44 Congenital adrenal hyperplasia is a family of inborn err

45 Congenital adrenal hyperplasia is a group of autosomal r

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

47 Management of adolescents with congenital adrenal hyperplasia is especially challenging

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

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

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

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

52 Women with congenital adrenal hyperplasia often develop the polycys

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

54 rmones, is caused by autoimmune destruction, congenital adrenal hyperplasia, pharmacological inhibiti

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

56 everal disorders of androgen excess, such as congenital adrenal hyperplasia, premature adrenarche and

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

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

59 40 to 80 percent lower in the patients with congenital adrenal hyperplasia than in the normal subjec

60 and testosterone, with increased activity in congenital adrenal hyperplasia variants associated with

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

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

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

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

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

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

67 Congenital adrenal hyperplasia with apparent combined P4