Nonclassic CAH, also termed as late onset of CAH, is a very mild form of 21-hydroxylase deficiency. The incidence of disease is estimated at 0.1% of population. Nonclassic CAH is usually diagnosed in the childhood before the age of 6 to 8 years as premature pubarche. The disease is not common in the infants and usually not before 6 to 8 months. This is a case report of 7-month female infant who was suspected of mild hyperandrogenism because of premature pubarche. The diagnosis was confirmed by mild basal elevation of 17-OHP (5.55 ng/ml) and characteristic hyper-response to ACTH, reaching values of 21 ng/ml, as well as accelerated bone maturation. The conventional treatment of NCAH was initiated, with glucocorticoid therapy (hydrocortisone) for one year and a half. After that period, our decision was to discontinue the hormonal therapy because of the impression that hyperandrogenism was mild (mild deficiency of the enzymes for steroid hormone synthesis). Child's growth, development and maturation are under constant control.
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http://dx.doi.org/10.2298/sarh04s1106j | DOI Listing |
Purpose: Polycystic Ovary Syndrome (PCOS) and Adrenal hyperplasia (CAH) are two pathologic conditions sharing several clinical features (hirsutism, acne, polycystic ovary morphology, metabolic alterations, ovulatory dysfunctions) and especially hyperandrogenism as a common clinical hallmark. Therefore, making a differential diagnosis of the two conditions still remains a great medical challenge.
Methods: In particular, the comparison discussed in this review referred to non-classical form of adrenal hyperplasia (NCAH), which regards the adult population, and the Endocrine Metabolic Syndrome (EMS), following the new set of PCOS diagnostic criteria proposed by the Experts Group on Inositol and Clinical Research, and on PCOS (EGOI-PCOS).
J Clin Res Pediatr Endocrinol
January 2025
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (). 21-hydroxylase deficiency has been divided into classical and non-classical forms.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
January 2025
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in . Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.
View Article and Find Full Text PDFJ Endocr Soc
November 2024
Medizinische Klinik and Poliklinik IV, Klinikum der Universität München, LMU München, Munich 80336, Germany.
Objective: To study pregnancy outcomes and complications in women with congenital adrenal hyperplasia (CAH).
Methods: A retrospective multicenter study was conducted at tertiary reference centers in 5 countries (Austria, Germany, Italy, Sweden, USA), including 72 adult women with CAH (nonclassic [NC] n = 34, simple virilizing [SV] n = 21, salt wasting [SW] n = 17).
Results: A total of 133 pregnancies, 112 live births, and 25 abortions were documented.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Department of Endocrinology and Inborn Metabolic Diseases, Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian 350000, China.
Objective: To assess the diagnostic efficiency of long-read sequencing (LRS) for the determination of CYP21A1P/CYP21A2 and TNXA/TNXB fusion genotypes among children with 21-hydroxylase deficiency (21-OHD) and explore their clinical characteristics.
Methods: LRS sequencing was carried out on 30 children diagnosed with 21-OHD at the Department of Endocrinology, Fujian Children's Hospital between November 2022 and September 2023 by clinical symptoms or conventional Sanger sequencing combined with multiple ligation-dependent probe amplification (MLPA). The results of the two methods were compared.
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