Found: 21
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Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and importance of fertility preservation.
- Published in:
- Basic & Clinical Andrology, 2023, v. 33, n. 1, p. 1, doi. 10.1186/s12610-022-00176-6
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- Publication type:
- Article
Loss of SUMO-specific protease 2 causes isolated glucocorticoid deficiency by blocking adrenal cortex zonal transdifferentiation in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-35526-5
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- Publication type:
- Article
Hormonal and spatial control of SUMOylation in the human and mouse adrenal cortex.
- Published in:
- FASEB Journal, 2019, v. 33, n. 9, p. 10218, doi. 10.1096/fj.201900557R
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- Publication type:
- Article
Urinary gonadotropin assay on 24-h collections as a tool to detect early central puberty onset in girls: determination of predictive thresholds.
- Published in:
- Human Reproduction, 2024, v. 39, n. 5, p. 1003, doi. 10.1093/humrep/deae055
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- Publication type:
- Article
Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report.
- Published in:
- 2016
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- Publication type:
- journal article
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00491
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- Publication type:
- Article
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder.
- Published in:
- Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00625
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- Publication type:
- Article
Triple-A syndrome: a wide spectrum of adrenal dysfunction.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 3, p. 199, doi. 10.1530/EJE-17-0642
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- Publication type:
- Article
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 1, p. 73, doi. 10.1530/EJE-16-0056
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- Publication type:
- Article
Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.867073
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- Publication type:
- Article
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.855082
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- Publication type:
- Article
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 30, doi. 10.1159/000507249
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- Publication type:
- Article
Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 5, p. 478, doi. 10.1515/jpem-2022-0330
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- Publication type:
- Article
Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia ».
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. e1808, doi. 10.1210/clinem/dgae229
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- Publication type:
- Article
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1171822
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- Publication type:
- Article
P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression.
- Published in:
- 2015
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- Publication type:
- Journal Article
Age- and Sex-Specific TSH Upper-Limit Reference Intervals in the General French Population: There Is a Need to Adjust Our Actual Practices.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 792, doi. 10.3390/jcm9030792
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- Publication type:
- Article
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3540, doi. 10.1002/ajmg.a.62966
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- Publication type:
- Article