183 related articles for article (PubMed ID: 31917682)
1. Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
Kallali W; Gray E; Mehdi MZ; Lindsay R; Metherell LA; Buonocore F; Suntharalingham JP; Achermann JC; Donaldson M
Eur J Endocrinol; 2020 Mar; 182(3):K15-K24. PubMed ID: 31917682
[TBL] [Abstract][Full Text] [Related]
2. Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.
Sahakitrungruang T; Tee MK; Blackett PR; Miller WL
J Clin Endocrinol Metab; 2011 Mar; 96(3):792-8. PubMed ID: 21159840
[TBL] [Abstract][Full Text] [Related]
3. P450scc deficiency (congenital lipoid adrenal hyperplasia): first reported case in Thailand and literature review.
Jaruratanasirikul S
J Med Assoc Thai; 1996 Aug; 79(8):531-5. PubMed ID: 8855637
[TBL] [Abstract][Full Text] [Related]
4. P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
Hauffa B; Hiort O
Endocr Dev; 2011; 20():54-62. PubMed ID: 21164259
[TBL] [Abstract][Full Text] [Related]
5. Can Digenic, Tri-Allelic Inheritance of Variants in
Ali N; Maharaj AV; Buonocore F; Achermann JC; Metherell LA
Front Endocrinol (Lausanne); 2022; 13():860055. PubMed ID: 35418949
[TBL] [Abstract][Full Text] [Related]
6. Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.
Claahsen-van der Grinten HL; Otten BJ; Takahashi S; Meuleman EJ; Hulsbergen-van de Kaa C; Sweep FC; Hermus AR
J Clin Endocrinol Metab; 2007 Feb; 92(2):612-5. PubMed ID: 17090637
[TBL] [Abstract][Full Text] [Related]
7. Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? First two cases of TARTS described in Addison-only X-linked adrenoleukodystrophy and a brief review of literature.
Tresoldi AS; Betella N; Hasenmajer V; Pozza C; Vena W; Fiamengo B; Negri L; Cappa M; Lania AGA; Lenzi A; Isidori AM; Pizzocaro A
J Endocrinol Invest; 2021 Mar; 44(3):391-402. PubMed ID: 32691371
[TBL] [Abstract][Full Text] [Related]
8. Production of 11-Oxygenated Androgens by Testicular Adrenal Rest Tumors.
Schröder MAM; Turcu AF; O'Day P; van Herwaarden AE; Span PN; Auchus RJ; Sweep FCGJ; Claahsen-van der Grinten HL
J Clin Endocrinol Metab; 2022 Jan; 107(1):e272-e280. PubMed ID: 34390337
[TBL] [Abstract][Full Text] [Related]
9. Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression.
Pang S; Yang X; Wang M; Tissot R; Nino M; Manaligod J; Bullock LP; Mason JI
Endocrinology; 1992 Jul; 131(1):181-6. PubMed ID: 1611996
[TBL] [Abstract][Full Text] [Related]
10. Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia.
Rohayem J; Tüttelmann F; Mallidis C; Nieschlag E; Kliesch S; Zitzmann M
Eur J Endocrinol; 2014 Apr; 170(4):K11-7. PubMed ID: 24394723
[TBL] [Abstract][Full Text] [Related]
11. Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency.
Kolli V; Kim H; Torky A; Lao Q; Tatsi C; Mallappa A; Merke DP
J Clin Endocrinol Metab; 2019 Feb; 104(2):269-276. PubMed ID: 30299480
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features.
Smeets EE; Span PN; van Herwaarden AE; Wevers RA; Hermus AR; Sweep FC; Claahsen-van der Grinten HL
J Clin Endocrinol Metab; 2015 Mar; 100(3):E524-30. PubMed ID: 25485724
[TBL] [Abstract][Full Text] [Related]
13. A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.
Fu R; Lu L; Jiang J; Nie M; Wang X; Lu Z
Medicine (Baltimore); 2017 May; 96(21):e6994. PubMed ID: 28538409
[TBL] [Abstract][Full Text] [Related]
14. X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients.
Binder G; Wollmann H; Schwarze CP; Strom TM; Peter M; Ranke MB
Clin Endocrinol (Oxf); 2000 Aug; 53(2):249-55. PubMed ID: 10931108
[TBL] [Abstract][Full Text] [Related]
15. Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia).
Müller J; Torsson A; Damkjaer Nielsen M; Petersen KE; Christoffersen J; Skakkebaek NE
Horm Res; 1991; 36(5-6):203-8. PubMed ID: 1668380
[TBL] [Abstract][Full Text] [Related]
16. Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia: the importance of optimal hormonal replacement.
Rohayem J; Bäumer LM; Zitzmann M; Fricke-Otto S; Mohnike K; Gohlke B; Reschke F; Jourdan C; Müller HL; Dunstheimer D; Weigel J; Jorch N; Müller-Rossberg E; Lankes E; Gätjen I; Richter-Unruh A; Hauffa BP; Kliesch S; Krumbholz A; Brämswig J
Eur J Endocrinol; 2021 Apr; 184(4):487-501. PubMed ID: 33524003
[TBL] [Abstract][Full Text] [Related]
17. Normal male external genitalia do not rule out CYP11A1 deficiency.
Sarathi V; Nagalingam C
BMJ Case Rep; 2019 Jul; 12(7):. PubMed ID: 31289154
[TBL] [Abstract][Full Text] [Related]
18. Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.
Walker AP; Fowkes RC; Saleh F; Kim SH; Wilkinson P; Cabrera-Sharp V; Talmud PJ; Humphries SE; Looijenga LH; Bouloux PM
Sex Dev; 2012; 6(6):284-91. PubMed ID: 23018754
[TBL] [Abstract][Full Text] [Related]
19. Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.
Dumic M; Duspara V; Grubic Z; Oguic SK; Skrabic V; Kusec V
Eur J Pediatr; 2017 Oct; 176(10):1393-1404. PubMed ID: 28879515
[TBL] [Abstract][Full Text] [Related]
20. A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
Parajes S; Kamrath C; Rose IT; Taylor AE; Mooij CF; Dhir V; Grötzinger J; Arlt W; Krone N
J Clin Endocrinol Metab; 2011 Nov; 96(11):E1798-806. PubMed ID: 21880796
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
