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1. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia

Author

S. F. Ahmed, Tatjana Milenkovic, Eduardo Corrêa Costa, Ruth Krone, Berenice B Mendonca, Niels H Birkebaek, Tania A. S. S. Bachega, Andrea Luczay, Irina-Alexandra Bacila, Martijn J J Finken, Sukran Poyrazoglu, Z. Yavas Abalı, Feyza Darendeliler, Tulay Guran, Eleni Daniel, H. J. van der Kamp, Márta Korbonits, Ajay Thankamony, Ana Vieites, Oliver Blankenstein, Heba Elsedfy, Antonio Balsamo, M. Sandrk, Nils Krone, N. Freeman, Jeremy W. Tomlinson, Klaus Mohnike, Corina Lichiardopol, H.L. Claahsen-van der Grinten, Martine Cools, Walter Bonfig, Salma R Ali, Mirela C Miranda, Rita Ortolano, L. de Vries, Navoda Atapattu, Sabine E. Hannema, Silvia Einaudi, Evelien F. Gevers, J. Bryce, Claire E Higham, Ayla Guven, Richard J. Ross, Violeta Iotova, Uta Neumann, Pediatric surgery, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), and Pediatrics

Subjects
Male, Pediatrics, Hydrocortisone, Endocrinology, Diabetes and Metabolism, CHILDREN, 0302 clinical medicine, Endocrinology, INSUFFICIENCY, Interquartile range, Adrenal Cortex Hormones, Medicine and Health Sciences, Practice Patterns, Physicians'/statistics & numerical data, Registries, Practice Patterns, Physicians', Hydrocortisone/administration & dosage, Child, Age Factors, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], General Medicine, Diabetes and Metabolism, Hormone Replacement Therapy/methods, Transgender hormone therapy, 030220 oncology & carcinogenesis, Fludrocortisone, Child, Preschool, INFANCY, Corticosteroid, GROWTH, Female, Glucocorticoid, medicine.drug, medicine.medical_specialty, Fludrocortisone/administration & dosage, Adolescent, medicine.drug_class, Hormone Replacement Therapy, DISORDERS, 030209 endocrinology & metabolism, 21-HYDROXYLASE DEFICIENCY, 03 medical and health sciences, Adrenal Cortex Hormones/administration & dosage, SDG 3 - Good Health and Well-being, Internal medicine, medicine, MANAGEMENT, Humans, Congenital adrenal hyperplasia, Glucocorticoids, Retrospective Studies, Adrenal Hyperplasia, Congenital, business.industry, CORTISOL, HYDROCORTISONE, Infant, Newborn, Infant, Glucocorticoids/administration & dosage, VELOCITY, medicine.disease, Mineralocorticoid, business, Adrenal Hyperplasia, Congenital/drug therapy
Abstract

Objective Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. Design This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International-CAH Registry. Methods Data were collected from 461 patients aged 0–18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 and 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement were analyzed from 4174 patient visits. Results The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0–14.5) mg/m2/day at age 1–8 years and the highest dose of 14.0 (11.6–17.4) mg/m2/day at age 12–18 years. Glucocorticoid doses decreased after 2010 in patients 0–8 years (P < 0.001) and remained unchanged in patients aged 8–18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. Conclusions Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.

Published
2021
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2. Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.

Author

Yavas Abalı Z and Guran T

Subjects
Humans, Female, Male, Disorders of Sex Development genetics, Disorders of Sex Development diagnosis, Adrenal Hyperplasia, Congenital genetics, Adrenal Hyperplasia, Congenital diagnosis, Adrenal Hyperplasia, Congenital therapy, 46, XX Disorders of Sex Development genetics, 46, XX Disorders of Sex Development diagnosis
Abstract

Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgens. The most common cause of 46,XX disorders/differences in sex development (DSD) is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, comprising >90% of 46,XX DSD cases. Deficiencies of 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase, and P450-oxidoreductase (POR) are rare types of CAH, resulting in 46,XX DSD. In all CAH forms, patients have normal ovarian development. The molecular genetic causes of 46,XX DSD, besides CAH, are uncommon. These etiologies include primary glucocorticoid resistance (PGCR) and aromatase deficiency with normal ovarian development. Additionally, 46,XX gonads can differentiate into testes, causing 46,XX testicular (T) DSD or a coexistence of ovarian and testicular tissue, defined as 46,XX ovotesticular (OT)-DSD. PGCR is caused by inactivating variants in NR3C1 , resulting in glucocorticoid insensitivity and the signs of mineralocorticoid and androgen excess. Pathogenic variants in the CYP19A1 gene lead to aromatase deficiency, causing androgen excess. Many genes are involved in the mechanisms of gonadal development, and genes associated with 46,XX T/OT-DSD include translocations of the SRY ; copy number variants in NR2F2 , NR0B1 , SOX3 , SOX9 , SOX10 , and FGF9 , and sequence variants in NR5A1 , NR2F2 , RSPO1 , SOX9 , WNT2B , WNT4 , and WT1 . Progress in cytogenetic and molecular genetic techniques has significantly improved our understanding of the etiology of non-CAH 46,XX DSD. Nonetheless, uncertainties about gonadal function and gender outcomes may make the management of these conditions challenging. This review explores the intricate landscape of diagnosing and managing these conditions, shedding light on the unique aspects that distinguish them from other types of DSD., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationship that could be construed as a potential conflict of interest., (Copyright © 2024 Yavas Abalı and Guran.)

Published
2024
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3. A rare cause of hypertension in childhood: Answers.

Author

Kucuk N, Yavas Abalı Z, Abalı S, Canpolat N, Yesil G, Turan S, Bereket A, and Guran T

Subjects
Aldosterone blood, Alkalosis blood, Alkalosis drug therapy, Alkalosis urine, Bartter Syndrome genetics, Child, Child, Preschool, Consanguinity, Cortisone blood, Cortisone urine, Diagnosis, Differential, Diagnostic Errors, Female, Humans, Hydrocortisone blood, Hydrocortisone urine, Hypertension blood, Hypertension drug therapy, Hypertension urine, Hypokalemia blood, Hypokalemia drug therapy, Hypokalemia urine, Infant, Male, Mineralocorticoid Excess Syndrome, Apparent complications, Mineralocorticoid Excess Syndrome, Apparent drug therapy, Mineralocorticoid Excess Syndrome, Apparent genetics, Potassium therapeutic use, Renin blood, Spironolactone therapeutic use, Mineralocorticoid Excess Syndrome, Apparent, Alkalosis genetics, Bartter Syndrome diagnosis, Hypertension genetics, Hypokalemia genetics, Mineralocorticoid Excess Syndrome, Apparent diagnosis
Published
2020
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