Article
Endocrinology & Metabolism
Ahmed Torky, Ninet Sinaii, Smita Jha, Jay Desai, Diala El-Maouche, Ashwini Mallappa, Deborah P. Merke
Summary: Patients with CAH have a higher prevalence of obesity, hypertension, insulin resistance, fasting hyperglycemia, and dyslipidemia during childhood and adulthood compared to the general US population, indicating an early onset of metabolic morbidity in this population. Treatment-related and familial factors play a role in the development of these metabolic conditions.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Myrthe J. M. Verhees, Manon Engels, Paul N. Span, Fred C. G. J. Sweep, Antonius E. van Herwaarden, Henrik Falhammar, Anna Nordenstroem, Emma A. Webb, Annette Richter-Unruh, Claire Bouvattier, Aude Brac de la Perriere, Wiebke Arlt, Nicole Reisch, Birgit Koehler, Marion Rapp, Nike M. M. L. Stikkelbroeck, Nel Roeleveld, Hedi L. Claahsen-van der Grinten
Summary: Men with 21OHD appeared to rate their QoL as good, similar to healthy populations and higher compared to chronically ill patients. Genotype did not significantly influence QoL, but undertreatment and the use of dexamethasone or prednisone were associated with higher QoL scores.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Chang Ho Ahn, Jaeyoon Shim, Han Na Jang, Young Ah Lee, Sang-Won Lee, Man Ho Choi, Jung Hee Kim
Summary: The serum steroid profiling analysis using liquid chromatography-mass spectrometry (LC-MS) can serve as valuable biomarkers for estimating metabolic risk in adult patients with classic congenital adrenal hyperplasia (CAH). Unsupervised clustering algorithm identified two distinct clusters of CAH patients based on serum steroid profiles, with cluster 2 showing higher levels of glucocorticoids and androgens and a significantly higher prevalence of metabolic syndrome compared to cluster 1.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2023)
Review
Endocrinology & Metabolism
Georgia Pitsava, Constantine A. Stratakis
Summary: Pediatric adrenocortical hyperplasias are rare conditions characterized by Cushing syndrome and genetic defects affecting the adrenal cortex. Most cases are caused by defects in the cyclic AMP/protein kinase A (cAMP/PKA) pathway, while a few cases have unidentified genetic defects. Congenital adrenal hyperplasia, mainly due to steroidogenic enzyme deficiencies, is another cause of adrenal hyperplasia in childhood.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Mark de Hora, Natasha Heather, Dianne Webster, Benjamin Albert, Paul Hofman
Summary: The controversy surrounding newborn screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone immunoassay has continued for almost 40 years. Mass spectrometry has shown improvements in screening, but at the expense of additional costs and laboratory workload. The search for novel steroid markers may lead to further advancements in screening.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Uta Neumann, Katarina Braune, Martin J. Whitaker, Susanna Wiegand, Heiko Krude, John Porter, Dena Digweed, Bernard Voet, Richard J. M. Ross, Oliver Blankenstein
Summary: This prospective study on the efficacy and safety of hydrocortisone granules in children with CAH and AI demonstrates that accurate dosing and monitoring resulted in lower end of recommended dose range for hydrocortisone, without trends for accelerated or reduced growth, and no occurrence of adrenal crises despite treatment-emergent adverse events.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Endocrinology & Metabolism
Mimi S. Kim, Nicole R. Fraga, Nare Minaeian, Mitchell E. Geffner
Summary: Classical CAH patients have a higher prevalence of cardiovascular metabolic risk factors, although the complete metabolic syndrome is relatively rare in children and adolescents. Understanding the traditional and non-traditional risk factors in CAH patients can guide treatment options and prevent the onset of metabolic syndrome in adulthood.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Kerstin Ekbom, Anna Strandqvist, Svetlana Lajic, Angelica Hirschberg, Henrik Falhammar, Anna Nordenstrom
Summary: The study found that a good adherence rate to therapy regimens and a younger age were key factors for a better quality of life in patients with CAH. Patients with classic CAH reported higher QoL than those with nonclassic CAH. Compared to the general population, patients with CAH, especially nonclassic, more frequently reported limitations related to body pain, vitality, and mental health.
CLINICAL ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Maria Arriba, Begona Ezquieta
Summary: Adrenal insufficiency in paediatric patients is often caused by congenital adrenal hyperplasia (CAH), a severe genetic disease. CYP21A2 gene testing is a crucial molecular diagnostic tool for confirming/discarding adrenal insufficiency, applicable to symptomatic patients and asymptomatic individuals with suspected hormone levels.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang
Summary: 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. This study analyzed 15 patients from three families and found that different phenotypes were caused by different CYP21A2 mutations. Gender and mutation type influence the phenotypes, and genetic analysis can aid in the diagnosis of atypical 21-hydroxylase deficiency patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
L. Lasaite, R. Navardauskaite, K. Semeniene, R. Verkauskiene
Summary: This study aimed to compare perceived psychological stress, emotional state, and quality of life between individuals with congenital adrenal hyperplasia (CAH) and control individuals. The study found that women with CAH had higher levels of perceived distress, tension-anxiety, depression-dejection, fatigue-inertia, and lower scores in the environmental domain of quality of life compared to control women. However, men with CAH did not differ from control men in terms of perceived psychological stress, emotional state, and quality of life.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2022)
Article
Endocrinology & Metabolism
Salma R. Ali, Jillian Bryce, Houra Haghpanahan, James D. Lewsey, Li En Tan, Navoda Atapattu, Niels H. Birkebaek, Oliver Blankenstein, Uta Neumann, Antonio Balsamo, Rita Ortolano, Walter Bonfig, Hedi L. Claahsen-van der Grinten, Martine Cools, Eduardo Correa Costa, Feyza Darendeliler, Sukran Poyrazoglu, Heba Elsedfy, Martijn J. J. Finken, Christa E. Fluck, Evelien Gevers, Marta Korbonits, Guilherme Guaragna-Filho, Tulay Guran, Ayla Guven, Sabine E. Hannema, Claire Higham, Ieuan A. Hughes, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Violeta Iotova, Nils P. Krone, Ruth Krone, Corina Lichiardopol, Andrea Luczay, Berenice B. Mendonca, Tania A. S. S. Bachega, Mirela C. Miranda, Tatjana Milenkovic, Klaus Mohnike, Anna Nordenstrom, Silvia Einaudi, Hetty van der Kamp, Ana Vieites, Liat de Vries, Richard J. M. Ross, S. Faisal Ahmed
Summary: The study analyzed data from children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, finding that the number of SDE per patient-year was higher in Low or Middle Income Countries. Infectious illness was the most common precipitating event for both SDE and AC.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Kerstin Ekbom, Svetlana Lajic, Henrik Falhammar, Anna Nordenstrom
Summary: The objective of this study was to assess transition readiness, quality of life, and medication adherence in adolescents and young adults with congenital adrenal hyperplasia (CAH). The results showed that the majority of CAH patients had good transition readiness and a good medication adherence rate, which were associated with improved quality of life.
ENDOCRINE PRACTICE
(2023)
Review
Medicine, General & Internal
Joanna Hubska, Anna Kepczynska-Nyk, Katarzyna Czady-Jurszewicz, Urszula Ambroziak
Summary: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. It can be diagnosed at different ages depending on the clinical form. In this case series, eight individuals were diagnosed with CAH between the ages of 18 and 81 years. The clinical presentations, genetic findings, and management of CAH were discussed. The importance of individualized management and long-term screening was emphasized.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
Claudia Giavoli, Enrico Iurlaro, Valentina Morelli, Giulia Rodari, Andrea Ronchi, Carlo Pietrasanta, Lorenza Pugni, Daniela Tubiolo, Paolo Properzi, Antonio Pesenti, Giovanna Mantovani, Enrico Ferrazzi, Maura Arosio
Summary: This case describes a pregnant woman with Covid-19 acute infection and non-classical congenital adrenal hyperplasia (NCAH) who required prompt care and treatment in a specialized hospital setting. The involvement of a multidisciplinary team ensured the well-being of both the mother and the newborn, as well as protection for all healthcare workers involved.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Usha V. Menon, Nisha Bhavani, R. V. Jayakumar, Harish Kumar, Vasantha Nair, V. P. Praveen, Arun S. Menon, Nithya Abraham, Aswin Pankaj
INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES
(2019)
Article
Endocrinology & Metabolism
Suchit Gupta, Kriti Joshi, Ghazala Zaidi, Aditya Narayan Sarangi, Kausik Mandal, Nisha Bhavani, Praveen Pavithran, Mini G. Pillai, Surya K. Singh, Tushar Godbole, Vijayalakshmi Bhatia, Eesh Bhatia
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2019)
Article
Nutrition & Dietetics
Nivedita Pavithran, Harish Kumar, Arun Somasekharan Menon, Gopala Krishna Pillai, Karimassery Ramaiyer Sundaram, Omorogieva Ojo
Article
Endocrinology & Metabolism
Nivethitha Karthika Lakshmanan, Praveen Pavithran, Nisha Bhavani, Nithya Abraham, Harish Kumar, Vasantha Nair, Usha Menon, Arun S. Menon, Prem Narayanan, Geetha Lakshmi
Summary: In a retrospective analysis of 37 children with monogenic diabetes in a South Indian tertiary care center from 2008 to 2019, the diagnoses included neonatal diabetes mellitus, MODY, and various syndromic forms of diabetes such as Wolfram syndrome, H syndrome, mitochondrial diabetes, and thiamine responsive megaloblastic anemia.
PEDIATRIC DIABETES
(2021)
Article
Endocrinology & Metabolism
Shiga Rappai Chirayath, Nisha Bhavani, K. P. Vinayan, V. P. Praveen, Sajitha Nair
Summary: Two critically ill children with rare reversible neurological complications due to DKA showed full recovery after treatment, highlighting the importance of prompt management and multidisciplinary approach in optimizing outcomes.
INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES
(2021)
Article
Endocrinology & Metabolism
Nisha Bhavani, Sajina Prince, Arun S. Menon, Nithya Abraham, Praveen V. Pavithran, Usha V. Menon, Vasantha Nair, Harish Kumar
Summary: The study found that the generic HRQoL was lower in children with T1DM compared to peers without diabetes in the state of Kerala, India. Parents and children had different perceptions about HRQoL, with lower SES patients reporting lower diabetes scores.
PEDIATRIC DIABETES
(2021)
Article
Endocrinology & Metabolism
G. Sampathkumar, P. P. Valiyaparambil, H. Kumar, N. Bhavani, V Nair, U. Menon, A. Menon, N. Abraham, A. Chapla, N. Thomas
Summary: This study aimed to screen for MODY variants in subjects with early age of onset and positive family history, and found that genetic diagnosis could be confirmed in only 6.6% of patients, which may be due to lower genetic confirmation rate and stricter criteria in Indians. In addition to variants in classical genes, a likely pathogenic variant in a non-classical gene was noted in this study.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2022)
Article
Endocrinology & Metabolism
Ana Monteiro, Praveen V. Pavithran, Manuprasad Puthukulangara, Nisha Bhavani, Sheela Nampoothiri, Dhanya Yesodharan, Reshma Kumaran
Summary: The purpose of this study is to assess the genotype of individuals with classic CAH from a South Indian cohort in a cost-effective manner, and to identify the common variants that can guide initial screening and further genetic sequencing.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
(2023)
Article
Medicine, General & Internal
Joel Franklin, Praveen Valliyaparambil Pavithran, Neeraj Sidharthan, Seethalkshmy Nalumackal Vijayan, Nithya Abraham, Nisha Bhavani, Vadayath Usha Menon, Vasantha Nair, Harish Kumar
Summary: Adult-onset hypophosphatemic osteomalacia is a rare disease with delayed diagnosis. Fanconi syndrome (FS) caused by monoclonal gammopathy is a well-recognized but uncommon cause of hypophosphatemia. Patients' relatively young age and normal routine hematological parameters often lead to late recognition of this treatable disease. Atypical features and challenges in diagnosis may be present in FS caused by monoclonal gammopathy.
ITALIAN JOURNAL OF MEDICINE
(2023)
Article
Endocrinology & Metabolism
Valiyaparambil Pavithran Praveen, Asmahane Ladjouze, Kay-Sara Sauter, Annie Pulickal, Efstathios Katharopoulos, Mafalda Trippel, Aurel Perren, Amit Pandey, Christa E. Flueck
JOURNAL OF THE ENDOCRINE SOCIETY
(2020)