eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital adrenal hyperplasia |
| Symptom | C0852654|21-hydroxylase deficiency |
| Sentences | 13 |
| PubMedID- 21689130 | High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency. |
| PubMedID- 24823785 | These mutations can be transferred to the functional cyp21a2 through intergenic recombination during meiosis or mitosis and lead to the congenital adrenal hyperplasia (cah) resulting from 21-hydroxylase deficiency. |
| PubMedID- 25427061 | A 14-year-old female with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency underwent bilateral adrenalectomy at 6 years of age as a result of poor hormonal control. |
| PubMedID- 22145701 | Context: patients with congenital adrenal hyperplasia (cah) because of 21-hydroxylase deficiency have multiple vascular risk factors. |
| PubMedID- 21050254 | Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency. |
| PubMedID- 20977425 | In some of these, such as for instance the 21-hydroxylase deficiency leading to congenital adrenal hyperplasia, the pathogenic mechanism is well known, while in others, such as the cystic adenomatoid malformation of the lung, it is not yet understood. |
| PubMedID- 23329749 | Pp is idiopathic (ipp) in most children, but it is the earliest manifestation of non-classical congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency (nc21ohd) in 5%-20% of cases. |
| PubMedID- 23359698 | Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. |
| PubMedID- 21222246 | A 34 year old female, with congenital adrenal hyperplasia because of 21-hydroxylase deficiency, presented with diffuse abdominal pain and vomiting. |
| PubMedID- 19281490 | Here, we report improvement of semen quality in a 30-year-old man with congenital adrenal hyperplasia (cah) because of 21-hydroxylase deficiency, bilateral testicular adrenal rest tumours (tart) and a 1.5-year infertility history. |
| PubMedID- 22069134 | Context: synthesis of cortisol and aldosterone is impaired in patients with congenital adrenal hyperplasia (cah) because of 21-hydroxylase deficiency. |
| PubMedID- 26291314 | congenital adrenal hyperplasia (cah) owing to 21-hydroxylase deficiency is caused by the autosomal recessive in-heritance of mutations in the gene cyp21a2. |
| PubMedID- 24830589 | Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21ohd) along childhood and adolescence, affected women are able to reach adulthood. |
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