Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Devasenathipathy Kandasamy, Rohan Malik, Rajni Sharma, Manisha Jana
Summary: An 11-year-old girl presented with gradually increasing painless abdominal distention, early satiety, and heaviness in the lower abdomen. She had normal breast development but absence of pubic and axillary hair, and short stature. Laboratory investigations revealed hypothyroidism, while abdominal CT and ultrasound showed multiple large cysts in both ovaries. The child's condition improved with medical treatment.
Article
Psychology, Developmental
Natalie Guerrero, Ioanna D. Athanassaki, Meghna R. Sebastian
Summary: Children from families with limited English proficiency have worse health outcomes, potentially due to social determinants impacting delayed diagnosis and treatment. In a case of VWGS, a primary caregiver with limited English proficiency may contribute to delayed presentation, highlighting ongoing challenges in disease management.
JOURNAL OF ADOLESCENT HEALTH
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Poonam Sherwani, Khanak K. Nandolia, Kirti Joshi, Radhapyari Lourembam
Summary: This case report discusses a rare condition known as Van Wyk Grumbach syndrome (VWGS), which involves isosexual precocious puberty with ovarian masses in long-standing juvenile hypothyroidism. The patient, a 4-year-old girl, was referred for imaging to determine the cause of non-traumatic bleeding per vagina. The antecedent history, clinical features, and thyroid function tests all supported a diagnosis of long-standing juvenile hypothyroidism, which had shown a clinical response to thyroxine replacement therapy.
SA JOURNAL OF RADIOLOGY
(2023)
Review
Endocrinology & Metabolism
Sara Maria Fernandez-Gonzalez, Marina Maria Perez Vila, Ana Maria Prado-Carro
Summary: Van Wyk-Grumbach syndrome is a rare manifestation characterized by severe hypothyroidism and incomplete precocious puberty. It is important to keep this in mind to avoid unnecessary tests and surgical interventions.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Article
Endocrinology & Metabolism
Sirisha Kusuma Boddu, Ahila Ayyavoo, Vani Hebbal Nagarajappa, Kiran Kalenahalli, Shantakumar Muruda, Raghupathy Palany
Summary: Prolonged hypothyroidism in children can cause short stature and delayed puberty, but a paradoxical occurrence of precocious puberty and pituitary enlargement in untreated juvenile hypothyroidism has been reported. This study aims to increase awareness and understanding of this clinical entity among healthcare professionals. Retrospective analysis of case records of children diagnosed with Van Wyk-Grumbach syndrome (VWGS) was conducted.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Article
Medicine, General & Internal
Shaista Kanwal, Zafran Ullah, Suleman Elahi Malik
Summary: This case report describes a six-year-old girl with Van Wyk Grumbach syndrome presenting with precocious puberty, short stature, and delayed bone age. Treatment resulted in significant improvement in her physical and hormonal profile.
KHYBER MEDICAL UNIVERSITY JOURNAL-KMUJ
(2022)
Article
Obstetrics & Gynecology
Bikram Bhardwaj, Jeevan Mohan Mesta, Sunil Kumar
Summary: Van Wyk Grumbach syndrome is a rare condition characterized by precocious puberty, hypothyroidism, and ovarian enlargement. Symptoms associated with elevated tumor markers can be completely resolved with thyroid hormone replacement therapy, without the need for surgery.
INDIAN JOURNAL OF GYNECOLOGIC ONCOLOGY
(2023)
Article
Neurosciences
Rohini M. Surve, Badri P. Das, Pavithra Venkateswaran, Karthik Kulanthaivelu
Summary: This report presents a rare case of Guillain Barre syndrome (GBS) most likely secondary to community-acquired Staphylococcus aureus necrotizing pneumonia, contributing to the clinical knowledge of this rare association.
Article
Medicine, General & Internal
Daniel Farrugia, Michael Caruana Dingli, Mark Grech
Summary: A man in his 60s with splenomegaly and recurrent angioedema was diagnosed with acquired C1-INH deficiency caused by splenic marginal zone lymphoma. Treatment with rituximab resulted in resolution of splenomegaly, disappearance of the antibody, and restoration of C1-INH levels.
Article
Clinical Neurology
Bhanu Gogia, Elena Shanina, Xiang Fang, Jing He, Xiangping Li
Summary: This case report highlights the importance of recognizing the rare manifestation of paraneoplastic stiff-limb syndrome and its oncological significance, emphasizing the early identification and treatment of the condition for the best chance of recovery.
FRONTIERS IN NEUROLOGY
(2021)
Article
Medicine, General & Internal
Nabil Braiteh, Godson D. Senyondo, Mohammed Faraaz Rahman, Raheel Chaudhry, Hisham Kashou
Summary: Myxedema coma is a rare but life-threatening endocrine emergency with a high mortality rate. This case report describes a 70-year-old male with myxedema coma presenting as acute coronary syndrome and cardiogenic shock, highlighting the importance of early recognition and treatment in patients with a history of hypothyroidism. Physicians should maintain a high index of suspicion for myxedema coma in such cases, as it can present with atypical clinical features such as ST elevation myocardial infarction.
AMERICAN JOURNAL OF CASE REPORTS
(2021)
Article
Medicine, General & Internal
Doron Kabiri, Diana Prus, Roie Alter, Gali Gordon, Shay Porat, Yossef Ezra
Summary: Group A Streptococcus infection after delivery can be life-threatening and characterized by high fever and abdominal pain. Atypical presentation may lead to delayed diagnosis.
FRONTIERS IN MEDICINE
(2022)
Article
Endocrinology & Metabolism
Rebecca McCowan, Edith Wild, Angela K. Lucas-Herald, Jane McNeilly, Avril Mason, Sze Choong Wong, S. Faisal Ahmed, M. Guftar Shaikh
Summary: Further research is needed to examine the relationship between COVID-19 and thyroid function in children and young people. Although the overall rates of presentation with thyroid dysfunction have not changed, there has been an increase in presentations with transient thyroid dysfunction that do not require ongoing treatment.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Medicine, General & Internal
Massimiliano Cantinotti, Pietro Marchese, Nadia Assanta, Eliana Franchi, Vitali Pak, Elisa Barberi, Alessandra Pizzuto, Giuseppe Santoro, Raffaele Giordano
Summary: This study explored the incidence, diagnosis, and management of native aortic thrombosis in hypoplastic left heart syndrome (HLHS) after different stages of Fontan palliation. The findings showed that native aortic thrombosis was found in 32 cases of HLHS, with three different anatomical subtypes identified. Diagnosis was mainly based on transthoracic echocardiography. Most patients were treated with anticoagulation, while a minority underwent surgical, direct, or systemic thrombolysis. Anticoagulation therapy was effective in HLHS patients, although the incidence of major events remained high.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Emma M. Mullarkey, Ashok Iyer, Ajibola Ihuoma
Summary: This case highlights the importance of correctly interpreting thyroid function tests (TFTs) as the patient's initial TFTs indicated central hypothyroidism which should have prompted urgent pituitary hormone screening. In addition, internal carotid artery aneurysms are a rare, yet important, cause of hypopituitarism.
Article
Endocrinology & Metabolism
Jan Idkowiak, Yasir S. Elhassan, Pascoe Mannion, Karen Smith, Rachel Webster, Vrinda Saraff, Timothy G. Barrett, Nicholas J. Shaw, Nils Krone, Renuka P. Dias, Melanie Kershaw, Jeremy M. Kirk, Wolfgang Hogler, Ruth E. Krone, Michael W. O'Reilly, Wiebke Arlt
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2019)
Article
Orthopedics
Wolfgang Hoegler, Craig Langman, Hugo Gomes da Silva, Shona Fang, Agnes Linglart, Keiichi Ozono, Anna Petryk, Cheryl Rockman-Greenberg, Lothar Seefried, Priya S. Kishnani
BMC MUSCULOSKELETAL DISORDERS
(2019)
Article
Endocrinology & Metabolism
Wolfgang Hoegler, Klaus Kapelari
JOURNAL OF BONE AND MINERAL RESEARCH
(2020)
Article
Pediatrics
Vrinda Saraff, Ruchi Nadar, Wolfgang Hoegler
Review
Biochemistry & Molecular Biology
Ahmed El-Gazzar, Wolfgang Hoegler
Summary: The strength of bone material is determined by various factors, and understanding the mechanisms of rare genetic bone fragility disorders not only advances medical knowledge but also may lead to drug development for more common disorders. The main disease mechanisms underlying bone fragility associated with low bone mass include type I collagen processing, WNT signaling, TGF-β signaling, the RANKL-RANK system, and the osteocyte mechanosensing pathway.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Nutrition & Dietetics
Anne Daly, Wolfgang Hoegler, Nicola Crabtree, Nick Shaw, Sharon Evans, Alex Pinto, Richard Jackson, Boyd J. Strauss, Gisela Wilcox, Julio C. Rocha, Catherine Ashmore, Anita MacDonald
Summary: Protein quality and quantity are crucial for determining muscle mass. In PKU, protein substitutes play a key role in providing nitrogen and amino acids. Results of a 3-year study comparing the impact of AA and CGMP-AA on body composition and growth did not show significant differences.
Article
Nutrition & Dietetics
Anne Daly, Wolfgang Hoegler, Nicola Crabtree, Nick Shaw, Sharon Evans, Alex Pinto, Richard Jackson, Catherine Ashmore, Julio C. Rocha, Boyd J. Strauss, Gisela Wilcox, William D. Fraser, Jonathan C. Y. Tang, Anita MacDonald
Summary: In children with PKU, bone density is clinically normal but slightly below the population average, blood biochemistry markers are within normal ranges, and bone turnover markers show active bone turnover.
Article
Endocrinology & Metabolism
Jan Idkowiak, Arlene Smyth, Lily Mundy, Amy Wanaguru, Helena Gleeson, Wolfgang Hoegler
Summary: This study assessed breast satisfaction in women with Turner syndrome using the validated BREAST-Q questionnaire. The findings showed that women who received estrogen replacement therapy had lower breast satisfaction scores, and those who experienced late menarche also reported lower satisfaction. These results suggest the need for further research on the impact of hormone replacement therapy types, delivery methods, doses, and timing on breast satisfaction.
CLINICAL ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Elisabeth Laurer, Antonio Sirovina, Alexandra Blaschitz, Katharina Tischlinger, Rodrigo Montero-Lopez, Thomas Hoertenhuber, Marlene Wimleitner, Wolfgang Hoegler
Summary: This study systematically analyzed the reversibility of childhood-onset idiopathic isolated growth hormone deficiency (IGHD) and found that the retesting growth hormone (GH) cut-off and time point can significantly affect the reversal rates. The results suggest that there is sufficient evidence to support the reevaluation of current IGHD management guidelines and early retesting of GH should be considered.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Nutrition & Dietetics
Nasser M. Al-Daghri, Sobhy Yakout, Shaun Sabico, Kaiser Wani, Syed Danish Hussain, Naji Aljohani, Suma Uday, Wolfgang Hoegler
Summary: Nutrition-acquired osteomalacia is prevalent in Arab adolescents, with a higher prevalence in girls compared to boys, which is likely associated with Arab traditional clothing and diet.
Article
Endocrinology & Metabolism
Joel A. Vanderniet, Vivian Szymczuk, Wolfgang Hogler, Signe S. Beck-Nielsen, Suma Uday, Nadia Merchant, Janet L. Crane, Leanne M. Ward, Alison M. Boyce, Craig F. Munns
Summary: Denosumab is an effective treatment for RANKL-mediated disorders in children and adolescents, although it is not curative and may be used in combination with surgical or other medical treatments. Multidisciplinary planning and expert oversight are necessary to manage the risk of mineral abnormalities. More research is needed to determine optimal treatment regimens and minimize risks.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Meeting Abstract
Endocrinology & Metabolism
Jan Idkowiak, Arlene Smith, Lily Mundy, Amy Wanaguru, Helena Gleeson, Wolfgang Hogler
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Thomas O. Carpenter, Wolfgang Hogler, Erik Imel, Anthony A. Portale, Annemieke Boot, Agnes Linglart, Raja Padidela, William Van'T Hoff, Gary S. Gottesman, Meng Mao, Alison Skrinar, Javier San Martin, Michael P. Whyte
JOURNAL OF BONE AND MINERAL RESEARCH
(2018)
Meeting Abstract
Pediatrics
William Vanthoff, Michael P. Whyte, Erik Imel, Anthony A. Portale, Annemieke Boot, Wolfgang Hogler, Agnes Linglart, Raja Padidela, Gar S. Gottesman, Meng Mao, Alison Skrinar, Javier San Martin, Thomas O. Carpenter
PEDIATRIC NEPHROLOGY
(2018)
Meeting Abstract
Endocrinology & Metabolism
Agnes Linglart, William Van't Hoff, Michael P. Whyte, Erik Imel, Anthony A. Portale, Annemieke Booth, Wolfgang Hogler, Raja Padidela, Meng Mao, Alison Skrinar, Javier San Martin, Thomas O. Carpenter
HORMONE RESEARCH IN PAEDIATRICS
(2018)