Article
Medical Laboratory Technology
Yiming Lin, Weihua Lin, Run Su, Zhenzhu Zheng, Qingliu Fu, Gaoxiong Wang
Summary: This study aimed to investigate the incidence, proportion, and genetic features of hyperphenylalaninemia (HPA) in a southern Chinese population. The HPA screening results for 580,460 newborns were analyzed, and the incidence of HPA was estimated to be 1 in 10,365 newborns. Differential diagnosis of tetrahydrobiopterin deficiency (BH4D) is crucial for early detection of HPA.
CLINICA CHIMICA ACTA
(2022)
Review
Endocrinology & Metabolism
Tomoyo Itonaga, Yukihiro Hasegawa
Summary: 21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. Newborn screening and genetic testing have improved the diagnosis of 21-OHD, but there are still challenges in treatment.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Summary: ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype-phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia. The study confirmed the significance of neonatal screening in the diagnosis of severe forms of CAH and the importance of screening for testicular adrenal rests tumor in male patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Zhihan Wan, Wencui Wang, Sichang Zheng, Rulai Han, Xiaoyan Xie, Yu Zhao, Weiqing Wang, Shouyue Sun, Lei Ye
Summary: We retrospectively analyzed the clinical and molecular features of 78 nonclassic adrenal hyperplasia (NCAH) patients and found associations between certain gene variants and onset age and hormone levels.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2023)
Article
Endocrinology & Metabolism
X. Zhang, Y. Gao, L. Lu, Y. Cao, W. Zhang, B. Sun, X. Wu, A. Tong, S. Chen, X. Wang, J. Mao, M. Nie
Summary: This study used targeted long-read sequencing to detect all types of CYP21A2 variants in a series of 21-OHD patients. The results showed that copy-number variants of CYP21A2 were found in 25.4% of patients, with 5.1% having 3 copies, 16.9% having 1 copy, and 3.4% having no copies of CYP21A2. 74.6% of patients had 2 copies of CYP21A2.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
Zhiyuan Zhao, Yinjie Gao, Lin Lu, Anli Tong, Shi Chen, Wei Zhang, Xiaoxia Zhang, Bang Sun, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
Summary: This study analyzed the relationship between genotype and phenotype in 21-Hydroxylase deficiency patients harboring P31L variant and the underlying mechanism. The findings suggest that the high incidence (57.4%) of simple virilizing form in these patients is partially due to both the promoter variants and P31L aligning in cis on one allele.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Mariska A. M. Schroder, Antonius E. van Herwaarden, Paul N. Span, Erica L. T. van den Akker, Gianni Bocca, Sabine E. Hannema, Hetty J. van Der Kamp, Sandra W. K. de Kort, Christiaan F. Mooij, Dina A. Schott, Saartje Straetemans, Vera van Tellingen, Janielle A. van der Velden, Fred C. G. J. Sweep, Hedi L. Claahsen-van der Grinten
Summary: This study compared two standard hydrocortisone timing strategies in young patients with 21-hydroxylase deficiency, either highest dosage in the morning or evening, and found no clear benefit for either schedule in terms of hormonal status, nocturnal blood pressure, and sleep and activity scores. Individual optimization of dose distribution and monitoring disease control at multiple time points is recommended due to variation in individual responses.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Xu Sun, Yijun Wu, Lin Lu, Weibo Xia, Li Zhang, Shi Chen, Min Nie, Guangyao Zheng, Wan Su, Huijuan Zhu, Zhaolin Lu
Summary: This study uses HR-pQCT scans to investigate the changes in bone microarchitecture in CAH patients and discovers potential correlations with clinical characteristics such as height and hormones. The results indicate abnormalities in bone structure and metabolism in CAH patients and provide a basis for further research.
CALCIFIED TISSUE INTERNATIONAL
(2023)
Article
Endocrinology & Metabolism
Suranut Charoensri, Richard J. Auchus
Summary: Cardiometabolic morbidities are prevalent among adults with 21OHD. Hypertension, age, and GC exposure are the main predictive factors of established CVDs in our cohort.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Nithiphut Tantirukdham, Taninee Sahakitrungruang, Ratikorn Chaisiwamongkol, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, Aayalida Buasong, Siraprapa Tongkobpetch, Patra Yeetong, Vorasuk Shotelersuk
Summary: This study successfully identified 96 pathogenic variants in the CYP21A2 gene in 48 patients with 21-OHD using locus-specific PCR and long-read DNA sequencing. The diagnostic yield of this approach was 100% in our cohort of patients with 21-OHD.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Anne Pourquet, Jordan Teoli, Aurore Bouty, Lucie Renault, Florence Roucher, Delphine Mallet, Chantal Rigaud, Frederique Dijoud, Pierre Mouriquand, Pierre-Yves Mure, Damien Sanlaville, Rene Ecochard, Ingrid Plotton
Summary: Determining steroid levels in the amniotic fluid provides insights into fetal adrenal and gonadal functions. This study aimed to establish reference ranges for 12 steroids during pregnancy and compare them to levels in pregnancies with 21-hydroxylase deficiency. The researchers used liquid chromatography coupled with tandem mass spectrometry to analyze amniotic fluid samples from control pregnancies and pregnancies with 21-hydroxylase deficiency. They found significant differences in certain steroids levels based on fetal sex and established age- and sex-dependent reference values. The study provides valuable information for prenatal diagnosis and the understanding of variations in fetal steroidogenesis.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Ditte Sofie Dahl Sorensen, Jesper Krogh, Ase Krogh Rasmussen, Mikkel Andreassen
Summary: The study demonstrated moderate to excellent repeatability in hormone levels among adult female patients with 21-hydroxylase deficiency, regardless of the time of day for blood sample collection. Additionally, only 21% of cases showed complete concordance in levels of 17-hydroxyprogesterone, androstenedione, and testosterone in a single-day measurement.
ENDOCRINE CONNECTIONS
(2022)
Article
Endocrinology & Metabolism
Ditte Sofie Dahl Sorensen, Jesper Krogh, Ase Krogh Rasmussen, Mikkel Andreassen
Summary: The study found that adrenal hormone levels in adult female patients with 21-hydroxylase deficiency showed moderate to excellent repeatability in everyday clinical practice, despite considerable variation in the time of blood sample collection. The repeatability of hormone levels was not affected by the use of long-acting glucocorticoids or the time of day for blood sample collection. No major predictors of hormone level variation were identified in the study.
ENDOCRINE CONNECTIONS
(2022)
Article
Medicine, General & Internal
Meng-Ju Melody Tsai, Wen-Yu Tsai, Cheng-Ting Lee, Shih-Yao Liu, Yin-Hsiu Chien, Yi-Ching Tung
Summary: This study evaluated the adult height of Taiwanese children with congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency (21-OHD) and the effect of a gonadotropin-releasing hormone analogue (GnRHa) in patients with central precocious puberty complicating 21-OHD. The study found that patients with 21-OHD had poorer mean adult height, and adjuvant therapy with GnRHa could improve the adult height of patients with CPP complicating 21-OHD.
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
(2023)
Article
Endocrinology & Metabolism
Richard J. Auchus, Kyriakie Sarafoglou, Patricia Y. Fechner, Maria G. Vogiatzi, Erik A. Imel, Shanlee M. Davis, Nagdeep Giri, Julia Sturgeon, Eiry Roberts, Jean L. Chan, Robert H. Farber
Summary: This study examined the safety, tolerability, and efficacy of crinecerfont as a selective CRF1R antagonist in patients with 21OHD. The results showed that crinecerfont treatment for 14 days significantly reduced adrenal androgen production and improved clinical symptoms in patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)