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Items: 1 to 20 of 7813

1.

Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.

Valadares LP, Pfeilsticker ACV, de Brito Sousa SM, Cardoso SC, de Moraes OL, Gonçalves de Castro LC, de Oliveira RS, Lofrano-Porto A.

Endocrine. 2018 Sep 21. doi: 10.1007/s12020-018-1691-4. [Epub ahead of print]

PMID:
30242600
2.

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report.

Yuan X, Lu L, Chen S, Jiang J, Wang X, Liu Z, Zhu H, Pan H, Lu Z.

BMC Endocr Disord. 2018 Sep 21;18(1):68. doi: 10.1186/s12902-018-0295-6.

PMID:
30241518
3.

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.

Goursaud C, Mallet D, Janin A, Menassa R, Tardy-Guidollet V, Russo G, Lienhardt-Roussie A, Lecointre C, Plotton I, Morel Y, Roucher-Boulez F.

Front Endocrinol (Lausanne). 2018 Sep 5;9:491. doi: 10.3389/fendo.2018.00491. eCollection 2018.

4.

Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.

Mo EY, Lee JY, Kim SY, Kim MJ, Kim ES, Lee S, Han JH, Moon SD.

Endocrinol Metab (Seoul). 2018 Sep;33(3):413-422. doi: 10.3803/EnM.2018.33.3.413.

5.

Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.

Nour MA, Gill H, Mondal P, Inman M, Urmson K.

Int J Pediatr Endocrinol. 2018;2018:8. doi: 10.1186/s13633-018-0063-4. Epub 2018 Sep 10.

6.

[Differences of Sex Development (DSD): Controversies and Challenges].

Bessiène L, Lombès M, Bouvattier C.

Ann Endocrinol (Paris). 2018 Sep;79 Suppl 1:S22-S30. doi: 10.1016/S0003-4266(18)31235-6. French.

PMID:
30213302
7.

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.

Guzzetti C, Bizzarri C, Pisaneschi E, Mucciolo M, Bellacchio E, Ibba A, Casula L, Novelli A, Loche S, Cappa M.

Horm Res Paediatr. 2018 Sep 4:1-9. doi: 10.1159/000492496. [Epub ahead of print]

PMID:
30179867
8.

Birth Sizes of Neonates with Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency.

Dörr HG, Penger T, Albrecht A, Marx M, Völkl TMK.

J Clin Res Pediatr Endocrinol. 2018 Sep 4. doi: 10.4274/jcrpe.0149. [Epub ahead of print]

9.

Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy.

Sellick J, Aldridge S, Thomas M, Cheetham T.

J Pediatr Endocrinol Metab. 2018 Sep 3. pii: /j/jpem.ahead-of-print/jpem-2018-0260/jpem-2018-0260.xml. doi: 10.1515/jpem-2018-0260. [Epub ahead of print] No abstract available.

PMID:
30173205
10.

Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia.

Mendes-Dos-Santos CT, Martins DL, Guerra-Júnior G, Baptista MTM, de-Mello MP, de Oliveira LC, Morcillo AM, Lemos-Marini SHV.

Horm Res Paediatr. 2018 Aug 27:1-8. doi: 10.1159/000492082. [Epub ahead of print]

PMID:
30149373
11.

Analysis of presentations and outcomes of care of children with disorders of sexual development in a Nigerian Hospital.

Nasir AA, Abdur-Rahman LO, Adesiyun OO, Bamigbola KT, Adegboye MB, Raji HO, Adesiyun OAM, Adeniran JO.

J Pediatr Adolesc Gynecol. 2018 Aug 24. pii: S1083-3188(18)30292-4. doi: 10.1016/j.jpag.2018.08.005. [Epub ahead of print]

PMID:
30149125
12.

Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life.

Sarfati J, Vatier C, Keller I, Guéchot J, Bellanné-Chantelot C, Christin-Maitre S.

J Endocr Soc. 2018 Jul 4;2(9):997-1000. doi: 10.1210/js.2018-00103. eCollection 2018 Sep 1.

13.

Large Divergence in Testosterone Concentrations between Men and Women: Frame of Reference for Elite Athletes in Sex-Specific Competition in Sports, a Narrative Review.

Clark RV, Wald JA, Swerdloff RS, Wang C, Wu FCW, Bowers LD, Matsumoto AM.

Clin Endocrinol (Oxf). 2018 Aug 23. doi: 10.1111/cen.13840. [Epub ahead of print]

PMID:
30136295
14.

Childhood Sex-Typed Behavior and Gender Change in Individuals with 46,XY and 46,XX Disorders of Sex Development: An Iranian Multicenter Study.

Khorashad BS, Roshan GM, Reid AG, Aghili Z, Moghadam MD, Khazai B, Hiradfar M, Afkhamizadeh M, Ghaemi N, Talaei A, Abbaszadegan MR, Aarabi A, Dastmalchi S, Van de Grift TC.

Arch Sex Behav. 2018 Aug 20. doi: 10.1007/s10508-018-1281-9. [Epub ahead of print]

PMID:
30128981
15.

Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review.

Daae E, Feragen KB, Nermoen I, Falhammar H.

Endocrine. 2018 Oct;62(1):3-13. doi: 10.1007/s12020-018-1723-0. Epub 2018 Aug 20. Review.

PMID:
30128958
16.

What about my daughter's future? Parental concerns when considering female genital restoration surgery in girls with congenital adrenal hyperplasia.

Szymanski KM, Whittam B, Kaefer M, Frady H, Cain MP, Rink RC.

J Pediatr Urol. 2018 Jul 23. pii: S1477-5131(18)30379-6. doi: 10.1016/j.jpurol.2018.07.010. [Epub ahead of print]

PMID:
30126743
17.

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants.

Güran T, Tezel B, Gürbüz F, Selver Eklioğlu B, Hatipoğlu N, Kara C, Şimşek E, Çizmecioğlu FM, Ozon A, Baş F, Aydın M, Darendeliler F.

J Clin Res Pediatr Endocrinol. 2018 Aug 14. doi: 10.4274/jcrpe.0117. [Epub ahead of print]

18.

[17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child].

Wei HL, Lu S, Wang XL, Li JW, Cui YP, Yao YS.

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Aug;20(8):675-679. Chinese.

19.

Congenital adrenal hyperplasia due to 17-alpha hydroxylase deficiency with hypertensive encephalopathy, hypoglycemic seizures and adrenal insufficiency.

Kumar N.

J Anaesthesiol Clin Pharmacol. 2018 Apr-Jun;34(2):261-262. doi: 10.4103/0970-9185.173401. No abstract available.

20.

Long-term Growth in Congenital Adrenal Hyperplasia.

Maheshwari A, Khadilkar V, Gangodkar P, Khadilkar A.

Indian J Pediatr. 2018 Aug 10. doi: 10.1007/s12098-018-2753-6. [Epub ahead of print]

PMID:
30097840

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