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European Journal of Endocrinology, ISSN 0804-4643, 09/2007, Volume 157, Issue 3, pp. 339 - 344
Journal Article
Journal Article
The Journal of clinical endocrinology and metabolism, ISSN 0021-972X, 05/2019
We describe clinical features and biochemical characteristics of a unique population of severely affected untreated patients with congenital adrenal... 
Journal Article
ENDOCRINE REVIEWS, ISSN 0163-769X, 08/2019, Volume 40, Issue 4, pp. 973 - 987
This review provides the reader with current insights on testicular adrenal rest tumors (TARTs), a complication in male patients with congenital adrenal... 
TRANSCRIPTION FACTORS | YOUNG-ADULTS | HYPERPLASIA PREVALENCE | PARATESTICULAR TUMORS | ADRENOGENITAL SYNDROME | TESTIS SPARING SURGERY | 21-HYDROXYLASE DEFICIENCY | ADULT MALES | ENDOCRINOLOGY & METABOLISM | LEYDIG-CELL TUMOR | CLINICAL CHARACTERISTICS
Journal Article
Hormone Research in Paediatrics, ISSN 1663-2818, 07/2015, Volume 83, Issue 6, pp. 414 - 421
Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to accumulation of steroid precursors and adrenal androgens. These... 
Original Paper | 17-hydroxyprogesterone | Congenital adrenal hyperplasia | Progesterone | Mineralocorticoid receptor | Sex steroids | IMMUNOLOCALIZATION | LOCALIZATION | CELLS | 21-HYDROXYLASE DEFICIENCY | TESTOSTERONE | POLYMORPHISM | GLUCOCORTICOID-RECEPTOR | MUTATION | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | HYPERTENSION
Journal Article
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 08/2019
Ambiguous genitalia affect 1 in 5,000 live births. Diagnostic procedures can be time-consuming, and often the etiology cannot be established in this group of... 
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 2015, Volume 159, Issue 23
Journal Article
Nederlands tijdschrift voor geneeskunde, ISSN 0028-2162, 2015, Volume 159, p. A7719
Multiple endocrine neoplasia type 2b (MEN2B) is a rare syndrome characterised by the occurrence of medullary thyroid carcinoma at a young age in all patients,... 
Multiple Endocrine Neoplasia Type 2b - diagnosis | Thyroid Neoplasms - diagnosis | Thyroid Neoplasms - surgery | Carcinoma, Neuroendocrine - diagnosis | Lymph Nodes - pathology | Prognosis | Early Detection of Cancer | Humans | Carcinoma, Neuroendocrine - surgery | Lymphatic Metastasis | Thyroidectomy | Syndrome | Adolescent | Female | Child
Journal Article
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 2017, Volume 102, Issue 2, pp. 339 - 344
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2018, Volume 26, Issue 1, pp. 54 - 63
Journal Article
Journal Article