Clinical outcomes and treatment adequacy assessment in congenital adrenal hyperplasia: A Single-Center experience with Long-Term Follow-Up.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος:	Clinical outcomes and treatment adequacy assessment in congenital adrenal hyperplasia: A Single-Center experience with Long-Term Follow-Up.
Συγγραφείς:	Fedai NK; Department of Endocrinology and Metabolism, Ankara Etlik City Hospital, Ankara, Türkiye, Turkey. neslihankoray@gmail.com., Unsal IO; Department of Endocrinology and Metabolism, Ankara Etlik City Hospital, Ankara, Türkiye, Turkey., Hepsen S; Department of Endocrinology and Metabolism, Ankara Etlik City Hospital, Ankara, Türkiye, Turkey., Ucan B; Department of Endocrinology and Metabolism, Ankara Etlik City Hospital, Ankara, Türkiye, Turkey., Ozbek M; Department of Endocrinology and Metabolism, Ankara Etlik City Hospital, Ankara, Türkiye, Turkey., Cakal E; Department of Endocrinology and Metabolism, Ankara Etlik City Hospital, Ankara, Türkiye, Turkey.
Πηγή:	Endocrine [Endocrine] 2025 Dec; Vol. 90 (3), pp. 1509-1517. Date of Electronic Publication: 2025 Sep 03.
Τύπος έκδοσης:	Journal Article
Γλώσσα:	English
Στοιχεία περιοδικού:	Publisher: Humana Press Country of Publication: United States NLM ID: 9434444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0100 (Electronic) Linking ISSN: 1355008X NLM ISO Abbreviation: Endocrine Subsets: MEDLINE
Imprint Name(s):	Publication: Feb. 1996- : Totowa, NJ : Humana Press Original Publication: Houndsmills, Basingstoke, Hants, UK : Macmillan Press, c1994-
Ιατρικοί όροι (MeSH):	Adrenal Hyperplasia, Congenital/drug therapy , Adrenal Hyperplasia, Congenital/blood , Adrenal Hyperplasia, Congenital*/therapy, 17-alpha-Hydroxyprogesterone/blood ; Humans ; Female ; Retrospective Studies ; Male ; Treatment Outcome ; Follow-Up Studies ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult
Περίληψη:	PURPOSE: Congenital adrenal hyperplasia (CAH), caused by defects in adrenal steroidogenesis, presents with variable clinical severity. This study aimed to compare clinical outcomes between classical (C-CAH) and nonclassical CAH (NCCAH), and to assess treatment adequacy in classical 21-hydroxylase deficiency using 17-hydroxyprogesterone (17-OHP) levels. METHODS: This retrospective cohort study included 91 CAH patients confirmed by cosyntropin stimulation or genetic analysis, and classified as C-CAH (n = 63) and NCCAH (n = 28). Treatment adequacy assessment focused on classical 21-hydroxylase deficiency patients (n = 59). Demographic characteristics, clinical findings, biochemical parameters, and treatments were evaluated. Treatment status was classified as adequate, under-, or overtreatment based on the average of the last three 17-OHP levels obtained within the past year. RESULTS: 21-hydroxylase deficiency was the predominant subtype. C-CAH patients were younger at diagnosis (p < 0.001) and more often presented with atypical genitalia (41.3%) or adrenal crisis (23.8%), whereas hirsutism (50%) and menstrual irregularities (32.1%) were common in NCCAH. All C-CAH patients and 21.4% of NCCAH patients received glucocorticoid therapy. The median hydrocortisone-equivalent glucocorticoid dose was significantly higher in C-CAH (20 mg/day) compared with NCCAH (11.65 mg/day, p < 0.001). In classical 21-hydroxylase deficiency, longer follow-up duration independently predicted adequate treatment (OR = 1.031; 95% CI: 1.006–1.056; p = 0.013). Glucose metabolism disorders were more prevalent in the overtreatment group (47.1% vs. 33.3% vs. 13.3%, p = 0.038), while other metabolic complications did not significantly differ between groups (p > 0.05). CONCLUSION: Our findings highlight distinct clinical and treatment patterns in CAH. Longer follow-up duration independently predicts treatment adequacy in classical CAH, emphasizing the importance of long-term specialized care. Our 17-OHP-based treatment adequacy assessment provides a practical monitoring framework with clear implications for preventing overtreatment associated metabolic complications.
Competing Interests:	Declarations. Conflict of interest: The authors declare no competing interests.
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Contributed Indexing:	Keywords: 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Glucocorticoids; Glucose metabolism disorders; Retrospective studies; Treatment adequacy
Substance Nomenclature:	68-96-2 (17-alpha-Hydroxyprogesterone)
SCR Disease Name:	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Entry Date(s):	Date Created: 20250903 Date Completed: 20260627 Latest Revision: 20261010
Update Code:	20261010
DOI:	10.1007/s12020-025-04411-8
PMID:	40903614
Βάση Δεδομένων:	MEDLINE

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Περιγραφή
ISSN:	1559-0100
DOI:	10.1007/s12020-025-04411-8