Article
Endocrinology & Metabolism
Seung Gyun Lim, Young Ah Lee, Han Na Jang, Sung Hye Kong, Chang Ho Ahn, Sang Wan Kim, Choong Ho Shin, Jung Hee Kim
Summary: The lack of long-term outcome studies in Asian adults with classic CAH due to 21-hydroxylase deficiency prompted this research. The findings demonstrate that adults with CAH have a higher metabolic risk compared to their age- and sex-matched controls, with significantly higher rates of hypertension and obesity observed. Additionally, factors such as TARTs in men and irregular menstruation in women were also examined, revealing a correlation with hormonal levels.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Jie Liu, Hong-Mei Dai, Gao-Peng Guang, Wen-Mu Hu, Ping Jin
Summary: This study reported a newborn 46 XY patient diagnosed with classic lipid adrenal hyperplasia (LCAH) with compound heterozygous mutations c.558C>A (p.S186 R) and c.772C>T (p.Q258*). The clinical and functional characteristics of these mutations were explored, and it was found that the patient exhibited severe glucocorticoid and mineralocorticoid deficiency, high adrenocorticotropic hormone, and enlarged adrenals. These findings expand our understanding of LCAH pathogenesis.
FRONTIERS IN GENETICS
(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
Medicine, General & Internal
Susanne Krege, Henrik Falhammar, Hildegard Lax, Robert Roehle, Hedi Claahsen-van der Grinten, Barbara Kortmann, Lise Duranteau, Agneta Nordenskjold
Summary: This study evaluated the long-term effects of early feminizing surgery in girls with 46,XX-CAH and reported outcomes from patients. The results showed some deficiencies in surgical feminization, including abnormalities in clitoris, clitoral hood, and labia appearance and functionality. While the majority of participants preferred early surgery and reported positive effects on their lives, about 10% had negative experiences. Therefore, the decision for early genital surgery in 46,XX-CAH girls should be carefully considered and parents should be provided with detailed information and support.
JOURNAL OF CLINICAL MEDICINE
(2022)
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)
Article
Endocrinology & Metabolism
Nermine Hussein Amr, Rana Abdelhakim Ahmed Mahmoud, Omneyia Youssef, Nadin Nabil Toaima, Heba Elsedfy
Summary: This study assessed the impact of cardiac function in children with congenital adrenal hyperplasia (CAH) and found that long-term glucocorticoid therapy can adversely affect cardiac functions.
CLINICAL ENDOCRINOLOGY
(2021)
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
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
Biochemistry & Molecular Biology
Chenmin Wei, Zichen Zhang, Miaomiao Sang, Hao Dai, Tao Yang, Min Sun
Summary: We reported a case of classic 11 beta-hydroxylase deficiency in a Chinese boy with compound heterozygous mutations in the CYP11B1 gene. A novel mutation, Q73X, was identified as exacerbating the disease burden in addition to the known pathogenic variant R141X. Three-dimensional homologous models confirmed that the mutant protein affected the binding capacity of CYP11B1 with heme and impaired 11 beta-hydroxylase activity.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2021)
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
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
Taek Min Kim, Jung Hee Kim, Han Na Jang, Man Ho Choi, Jeong Yeon Cho, Sang Youn Kim
Summary: This study evaluated the relationship between adrenal morphology and disease control status in adults with classical 21OHD. The results suggest that adrenal volume and width may be reliable quantitative parameters for monitoring patients with classical 21OHD.
ENDOCRINOLOGY AND METABOLISM
(2022)
Article
Biochemistry & Molecular Biology
Guoying Ma, Reziwanguli Wusiman, Suli Li, Fuhui Ma, Yanying Guo
Summary: CYP11B1 gene mutations can cause congenital adrenal hyperplasia, and the pathogenicity of the p.P377L mutation has not been confirmed. This study demonstrated through in vitro experiments that this mutation may affect protein expression and enzymatic activity.
BIOCHEMICAL GENETICS
(2023)
Article
Endocrinology & Metabolism
Jonathan Weber, Veeraya K. Tanawattanacharoen, Amy Seagroves, Mark C. Liang, Christina M. Koppin, Heather M. Ross, Tania A. S. S. Bachega, Mitchell E. Geffner, Monica Serrano-Gonzalez, Gagandeep Bhullar, Mimi S. Kim
Summary: The study found that lower epinephrine levels in infants with classical CAH are associated with increased risk of illness in the first year of life. Measuring epinephrine levels and assessing genotype may help predict acute illness in these infants.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
F. Sahlander, J. Patrova, B. Mannheimer, J. D. Lindh, H. Falhammar
Summary: This study found a higher prevalence of CAH in patients with ATs. There were some common characteristics among these patients, such as being predominantly female and older in age. Additionally, CAH was associated with an increased risk of mortality.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Genetics & Heredity
Agneta Nordenskjold, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin
Summary: Bladder exstrophy is a rare congenital malformation with a clear genetic background. Chromosome aberrations, particularly 22q11-duplications, are commonly found in patients. Several genes, including LZTR1, ISL1, CELSR3, and WNT3, have been implicated in the disease, but many remain unexplained molecularly. Using chromosomal microarray analysis, we identified pathogenic or possibly pathogenic chromosomal deletions or duplications in a cohort of 140 bladder exstrophy patients, suggesting the involvement of specific molecular pathways such as the WNT-signaling pathway and the chromosome 22q11 region.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Endocrinology & Metabolism
Jessica H. Lee, Emily J. Meyer, Marne A. Nenke, Henrik Falhammar, David J. Torpy
Summary: Corticosteroid-binding globulin (CBG) is a circulating glycoprotein that binds to cortisol with high affinity. Its binding capacity is reduced in sepsis by factors such as fever, acidemia, and neutrophil elastase (NE) cleavage. This enables targeted delivery of cortisol to specific tissues during sepsis and septic shock. In addition, inflammatory cytokines in sepsis suppress CBG synthesis, leading to an increase in free cortisol levels. Recent clinical studies have shown that CBG deficiency is associated with increased mortality in septic shock.
TRENDS IN ENDOCRINOLOGY AND METABOLISM
(2023)
Article
Endocrinology & Metabolism
Hanna F. Nowotny, Jillian Bryce, Salma R. Ali, Roberta Giordano, Federico Baronio, Irina Chifu, Lea Tschaidse, Martine Cools, Erica L. T. van den Akker, Henrik Falhammar, Natasha M. Appelman-Dijkstra, Luca Persani, Guglielmo Beccuti, Ian L. Ross, Simona Grozinsky-Glasberg, Alberto M. Pereira, Eystein S. Husebye, Stefanie Hahner, S. Faisal Ahmed, Nicole Reisch
Summary: This study is the first to collect data on the outcome of COVID-19 infection in patients with adrenal gland disorders, suggesting good clinical outcomes with appropriate dose adjustments and emphasizing the importance of patient education on sick day rules.
ENDOCRINE CONNECTIONS
(2023)
Article
Endocrinology & Metabolism
Jonatan D. Lindh, Jekaterina Patrova, R. Louise Rushworth, Buster Mannheimer, Henrik Falhammar
Summary: This study investigated adrenal involvement and associated mortality in patients with tuberculosis. It found that the risk of having an adrenal tumor was increased in tuberculosis patients, and patients with adrenal tuberculosis had a higher mortality rate.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Editorial Material
Health Care Sciences & Services
Anna Nordenstrom, Henrik Falhammar
LANCET REGIONAL HEALTH-EUROPE
(2023)
Article
Endocrinology & Metabolism
Henrik Falhammar, Angelica Linden Hirschberg, Agneta Nordenskjold, Henrik Larsson, Anna Nordenstrom
Summary: The prevalence of injuries and accidents is higher in females with congenital adrenal hyperplasia (CAH), especially in those with classical phenotype and born before the neonatal screening program.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Annabelle G. Hayes, Michael Stowasser, Mahesh M. Umapathysivam, Henrik Falhammar, David J. Torpy
Summary: A reninoma is a functional tumor that hyperactivates the renin-angiotensin-aldosterone system, resulting in severe hypertension and hypokalemia. It is a potentially curable cause of secondary hyperaldosteronism, with a higher prevalence in women of childbearing age. Reninoma can be differentiated from renovascular hypertension and should be managed through surgical resection or with medications that are safe during pregnancy.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Zahra Al Shukri, Juhaina Salim Al-Maqbali, Abdullah M. Al Alawi, Nafila Al Riyami, Sulaiman Al Riyami, Hiba Al Alawi, Qatiba Al Farai, Henrik Falhammar
Summary: This study investigated the incidence of dysmagnesemia and associated factors among medically hospitalized patients. The results showed that dysmagnesemia was observed in 22.0% of the evaluated patients, with 17.4% having hypomagnesemia and 4.6% having hypermagnesemia. Statistically significant associations were found between hypermagnesemia and chronic kidney disease (CKD) and impaired renal function, while hypomagnesemia was associated with lower ionized calcium levels and hospitalization due to infectious diseases.
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Juhaina Salim Al-Maqbali, Abdullah M. Al Alawi, Zubaida Al-Falahi, Henrik Falhammar, Ibrahim Al-Zakwani, Mohammed Al Za'abi
Summary: This study aimed to determine the stability of iMg concentration in refrigerated analytes at different time intervals, and establish iMg reference range in healthy Omani volunteers. The study found that refrigerated samples showed excellent correlation with fresh samples within a refrigeration period of <= 1 hour.
Review
Medicine, General & Internal
Aya Hasan Aal-Hamad, Abdullah M. M. Al-Alawi, Masoud Salim Kashoub, Henrik Falhammar
Summary: Hypermagnesemia is a rare but potentially life-threatening condition characterized by high levels of magnesium in the blood. Magnesium is essential for various physiological functions, and low magnesium levels can lead to neuromuscular, cardiac, or nervous system disorders. Prompt identification and management of hypermagnesemia are crucial to prevent complications and adverse clinical outcomes. Preventive measures and clinical management involve discontinuing magnesium-containing therapies, intravenous fluid therapy, or dialysis in severe cases and regular monitoring of serum magnesium levels in at-risk patients.
MEDICINA-LITHUANIA
(2023)
Review
Oncology
Dan Granberg, Carl Christofer Juhlin, Henrik Falhammar, Elham Hedayati
Summary: Lung carcinoids are categorized as typical or atypical based on their histological appearance. Most of these tumors are slow-growing but possess malignant potential. Many patients are incidentally diagnosed on chest X-rays or CT scans, with symptoms including cough, hemoptysis, wheezing, dyspnea, and recurrent pneumonia. Endocrine symptoms are rare. Surgery is the primary treatment, even when lymph node metastases are present. Patients with distant metastases may be treated with somatostatin analogues, temozolomide-based chemotherapy, mTOR inhibitors, or PRRT with 177Lu-DOTATATE. Prognosis is generally excellent, but atypical histology and lymph node metastases at diagnosis are poor prognostic factors. Long-term follow-up is necessary for timely detection of metastases.
Article
Endocrinology & Metabolism
Henrik Falhammar, Ove Torring, Martin Larsson, David Nathanson
Summary: This case report suggests that diclofenac may lead to hypoglycemia.
Article
Endocrinology & Metabolism
Stephen Paul Fitzgerald, Nigel G. Bean, Henrik Falhammar, Rudolf Hoermann
Summary: This study found evidence of linkage between thyroid and pituitary sensitivities, suggesting a non-random directed combination. This linkage may minimize inter-individual variation in free thyroxine levels, enhancing homeostasis and potentially providing an evolutionary advantage.