Article
Endocrinology & Metabolism
Jakob Hoeppner, Sabrina Lais, Claudia Roll, Andreas Wegener-Panzer, Dagmar Wieczorek, Wolfgang Hoegler, Corinna Grasemann
Summary: Familial hypocalciuric hypercalcemia (FHH) is a benign endocrine condition caused by heterozygous inactivating mutations in the calcium sensing receptor (CaSR). This condition can lead to neonatal hyperparathyroidism if the mutation is paternally inherited, but can be successfully treated with cinacalcet. Patients with FHH should be aware of the risk of neonatal disease manifestation and monitor pregnancies and neonates accordingly.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Medicine, General & Internal
Jakob Hoeppner, Kathrin Sinningen, Adalbert Raimann, Barbara Obermayer-Pietsch, Corinna Grasemann
Summary: This review focuses on the genetic and pathophysiological framework of neonatal hyperparathyroidism, provides counseling recommendations, and summarizes treatment options.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Surgery
Bruno Miguel Fernandes, Tiago Pimenta, Lucia Costa, Miguel Bernardes
Summary: We report a rare case of a 39-year-old woman with ankylosing spondylitis who was simultaneously diagnosed with primary hyperparathyroidism and familial hypocalciuric hypercalcemia. This study highlights the importance of considering familial hypocalciuric hypercalcemia as a possible diagnosis, even in patients with an established diagnosis of primary hyperparathyroidism.
INDIAN JOURNAL OF SURGERY
(2022)
Article
Surgery
Thomas Szabo Yamashita, Hallbera Gudmundsdottir, Trenton R. Foster, Melanie L. Lyden, Benzon M. Dy, Peter J. Tebben, Travis McKenzie
Summary: This study retrospectively reviewed the data of pediatric patients (<= 21 years) undergoing surgery for primary hyperparathyroidism (PHPT). The results showed that PHPT is rare in children and mostly sporadic. Familial cases have higher recurrence rates and require closer follow-up.
AMERICAN JOURNAL OF SURGERY
(2023)
Article
Medicine, General & Internal
Edmat Akhtar Khan, Lynda Cheddani, Camille Saint-Jacques, Rosa Vargas-Poussou, Vincent Frochot, Remi Chieze, Emmanuel Letavernier, Virginie Avellino, Francois Lionnet, Jean-Philippe Haymann
Summary: The biochemical phenotype of pHPT in SCD patients resembles that of FHH, with lower ionized calcium and urinary calcium excretion. Low fasting FeCa2+ in both pHPT and non-pHPT SCD patients is associated with PTH levels and hemolytic biomarkers.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocio Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixas, Mercedes Rigla
Summary: Genetic screening in a Mediterranean cohort of suspected familial hyperparathyroidism revealed a high prevalence of germline variants, leading to early diagnosis and treatment for patients and early intervention in their relatives. It is recommended to conduct genetic testing for patients with primary hyperparathyroidism who present high-risk features.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Surgery
Jagdeep Singh Bhangu, Sabina Baumgartner-Parzer, Lindsay Hargitai, Peter Mazal, Christian Scheuba, Philipp Riss
Summary: Novel heterozygous variants in the CaSR gene were discovered in the study, complicating the differential diagnosis of PHPT and FHH1. Parathyroid surgery did not provide long-term benefits for patients with FHH1, suggesting caution in considering surgical intervention.
Article
Endocrinology & Metabolism
Nardeen B. Dawood, Chi-Hong Tseng, Dalena T. Nguyen, Kimberly L. Yan, Masha J. Livhits, Angela M. Leung, Michael W. Yeh
Summary: PHPT, a common cause of hypercalcemia and secondary osteoporosis, is often underdiagnosed. A retrospective cohort study revealed that more than half of patients with confirmed hypercalcemia were not assessed for PHPT, leading to missed opportunities to avoid skeletal and other complications. Care gaps in BMD assessment and therapy represent areas for improvement in PHPT management.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Endocrinology & Metabolism
Maryam Zahedi, Reyhane Hizomi Arani, Maryam Rafati, Atieh Amouzegar, Farzad Hadaegh
Summary: The case presented a 19-year-old girl with persistent hypercalcemia not entirely matching with known differential diagnoses. Despite exhibiting features more consistent with FHH, genetic studies for common FHH-associated genes were negative, suggesting the need for further research to identify other potential causes.
BMC ENDOCRINE DISORDERS
(2021)
Article
Endocrinology & Metabolism
Natasha M. Appelman-Dijkstra, Stefan Pilz
Summary: Taking care of pregnant patients with parathyroid disorders requires consideration of changes in bone and mineral metabolism. The diagnostic and therapeutic approaches differ from the nonpregnant population. Parathyroidectomy is recommended for primary hyperparathyroidism before pregnancy to reduce complications. Conservative treatment and active surveillance are recommended for hypoparathyroidism. Postpartum monitoring is necessary, as there is an increased risk of hypercalcemia.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Mojca Jensterle, Andrej Janez, Tina Vipotnik Vesnaver, Marusa Debeljak, Nika Breznik, Katarina Trebusak Podkrajsek, Rok Herman, Eric Fliers, Tadej Battelino, Magdalena Avbelj Stefanija
Summary: The presence of multiple prolactinomas in a patient with KS has not been reported before. It is still unclear whether sex hormone treatment in KS patients can lead to the development of prolactinomas. The occurrence of multiple prolactinomas in our patient suggests increased susceptibility. Although the CaSR gene is expressed in GnRH neurons in mice, and CaSR-deficient mice have a reduced hypothalamic GnRH neuronal population, the relevance of the CASR gene variant in our patient for the KS phenotype is currently unclear.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Natasha M. Appelman-Dijkstra, Diana-Alexandra Ertl, M. Carola Zillikens, Lars Rjenmark, Elizabeth M. Winter
Summary: Diagnosing and treating hypercalcemia during pregnancy can be challenging due to physiological changes in calcium homeostasis and increased mobilization of calcium to meet fetus' requirements. The article discusses diagnostic challenges, management, and patient perspective in two specific cases and rare conditions causing hypercalcemia.
Article
Endocrinology & Metabolism
Sarah Vincze, Nicholas Peters, Chia-Ling Kuo, Taylor C. Brown, Reju Korah, Timothy D. Murtha, Justin Bellizzi, Aaliyah Riccardi, Kourosh Parham, Tobias Carling, Jessica Costa-Guda, Andrew Arnold
Summary: GCM2 variants are found in a significant number of patients with primary hyperparathyroidism, but their penetrance is very low, indicating a low risk of developing the disease for individuals carrying these variants. Further research is needed to assess the clinical importance of detecting these GCM2 variants.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Paul M. Bunch, Christopher J. Nguyen, Erik D. Johansson, Reese W. Randle
Summary: This study aimed to assess the importance of routine CT in the diagnosis of primary hyperparathyroidism. The results showed that enlarged parathyroid glands were frequently visible on CT images, which corresponded to pathologically proven parathyroid lesions. Almost half of the patients developed hyperparathyroidism-related comorbidities between CT and subsequent biochemical screening.
ACADEMIC RADIOLOGY
(2023)
Article
Endocrinology & Metabolism
Natalia G. Mokrysheva, Anna K. Eremkina, Alina R. Elfimova, Elena V. Kovaleva, Anastasiia P. Miliutina, Ekaterina E. Bibik, Anna M. Gorbacheva, Ekaterina A. Dobreva, Irina S. Maganeva, Julia A. Krupinova, Rustam H. Salimkhanov, Lizaveta A. Aboishava, Elena V. Karaseva, Galina A. Melnichenko, Ivan I. Dedov
Summary: The aim of this study was to estimate the clinical and biochemical profile, complications, surgical intervention, and medical therapy of patients with primary hyperparathyroidism (PHPT) in the Russian Federation. The results showed that the detection rate of PHPT has increased in recent years, but most patients still had significant alterations in phosphorus-calcium metabolism, indicating delayed diagnosis and the need for further improvement in medical care.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Letter
Ethics
Trevor M. Bibler, Myrick C. Shinall, Devan Stahl
AMERICAN JOURNAL OF BIOETHICS
(2018)
Article
Ethics
Trevor M. Bibler, Myrick C. Shinall, Devan Stahl
AMERICAN JOURNAL OF BIOETHICS
(2018)
Article
Health Care Sciences & Services
Myrick C. Shinall, E. Wesley Ely, Mohana Karlekar, Samuel G. Robbins, Rameela Chandrasekhar, Sara F. Martin
AMERICAN JOURNAL OF HOSPICE & PALLIATIVE MEDICINE
(2018)
Article
Health Care Sciences & Services
Myrick C. Shinall, Sara F. Martin, Jill Nelson, Richard S. Miller, Matthew W. Semler, Eli E. Zimmerman, Christy C. Noblit, E. Wesley Ely, Mohana Karlekar
AMERICAN JOURNAL OF HOSPICE & PALLIATIVE MEDICINE
(2018)
Letter
Surgery
Myrick C. Shinall, Jesse M. Ehrenfeld, Oliver L. Gunter
Editorial Material
Health Care Sciences & Services
Myrick C. Shinall
Article
Health Care Sciences & Services
Myrick C. Shinall, Devan Stahl, Trevor M. Bibler
JOURNAL OF PAIN AND SYMPTOM MANAGEMENT
(2018)
Article
Health Care Sciences & Services
Myrick C. Shinall, Jo Ellen Wilson, Mohana Karlekar, E. Wesley Ely
AMERICAN JOURNAL OF HOSPICE & PALLIATIVE MEDICINE
(2019)
Article
Endocrinology & Metabolism
Myrick C. Shinall, Carmen C. Solorzano
ENDOCRINE PRACTICE
(2014)
Article
Surgery
Myrick C. Shinall, Jesse M. Ehrenfeld, Oscar D. Guillamondegui
JOURNAL OF SURGICAL RESEARCH
(2014)
Article
Health Care Sciences & Services
Samuel G. Robbins, Amber J. Hackstadt, Sara Martin, Myrick C. Shinall
JOURNAL OF PALLIATIVE MEDICINE
(2019)
Article
Health Care Sciences & Services
Myrick C. Shinall, Mohana Karlekar, Sara Martin, Cheryl L. Gatto, Sumi Misra, Chan Y. Chung, Michael K. Porayko, Andrew E. Scanga, Natasha J. Schneider, E. Wesley Ely, Jill M. Pulley, Rebecca N. Jerome, Mary Lynn Dear, Douglas Conway, Reagan Buie, Dandan Liu, Christopher J. Lindsell, Gordon R. Bernard
JOURNAL OF PAIN AND SYMPTOM MANAGEMENT
(2019)
Article
Religion
Myrick C. Shinall
JOURNAL OF BIBLICAL LITERATURE
(2018)
Article
Public, Environmental & Occupational Health
Myrick C. Shinall, Oscar D. Guillamondegui
JOURNAL OF RELIGION & HEALTH
(2015)
Article
History & Philosophy Of Science
Myrick C. Shinall
PERSPECTIVES IN BIOLOGY AND MEDICINE
(2014)