Article
Endocrinology & Metabolism
Sandy C. Liu, Malavika Suresh, Mutaz Jaber, Yesica Mercado Munoz, Kyriakie Sarafoglou
Summary: Most children with non-classic congenital adrenal hyperplasia (NC-CAH) do not require cortisol replacement therapy unless they develop symptoms of hyperandrogenemia. Symptomatic children are treated with hydrocortisone to suppress adrenal androgen production. In some cases, an alternative therapy using aromatase inhibitors (AIs) to target increased estrogen production and its effects on bone maturation can be considered. Monotherapy with anastrozole has been found to effectively slow down bone maturation and improve height outcomes in children with NC-CAH and normal adrenal cortisol production.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Tara Hyder, Christopher C. Marino, Sasha Ahmad, Azadeh Nasrazadani, Adam M. Brufsky
Summary: Aromatase inhibitors (AIs) are essential in the management of hormone receptor-positive (HR+) breast cancer, but their use is limited by the musculoskeletal adverse effects known as aromatase inhibitor-associated musculoskeletal syndrome (AIMSS), which includes bone loss and arthralgias. The pathophysiology of AIMSS is not fully understood, but is proposed to be related to estrogen deprivation in the musculoskeletal and nervous systems.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Karin H. Nilsson, Jianyao Wu, Karin L. Gustafsson, Maha El Shahawy, Antti Koskela, Juha Tuukkanen, Jan Tuckermann, Petra Henning, Ulf H. Lerner, Claes Ohlsson, Sofia Moverare-Skrtic
Summary: Osteoblast-derived RSPO3 is a crucial regulator of vertebral trabecular bone. Our findings show that RSPO3 and estrogen regulate trabecular bone independent of each other, but that RSPO3 is necessary for a complete estrogenic effect on cortical bone.
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM
(2022)
Review
Endocrinology & Metabolism
Maki Fukami, Tsutomu Ogata
Summary: Estrogens play important roles in pubertal development, reproductive function, bone turnover, and metabolic conditions. Mutations in genes related to estrogen synthesis and action can lead to congenital disorders. Clinical studies on these disorders provide insights into the functions of estrogens in the human body.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Chemistry, Medicinal
Nicholas A. Young, Jeffrey Hampton, Juhi Sharma, Kyle Jablonski, Courtney DeVries, Anna Bratasz, Lai-Chu Wu, Maryam Lustberg, Raquel Reinbolt, Wael N. Jarjour
Summary: Aromatase inhibitors block estrogen production and improve survival in hormone-receptor-positive breast cancer patients, but can also induce joint inflammation (AIIA). A study using a novel animal model found that AIIA is characterized by enhanced NF kappa B activation and inflammation in the joints and surrounding tissue. The findings suggest that AIIA pathogenesis may not be mediated by estrogen deficiency, as previously hypothesized.
Article
Endocrinology & Metabolism
Giangiacomo Osella, Soraya Puglisi, Anna Ali, Giuseppe Reimondo, Massimo Terzolo
Summary: This case report highlights the potential risk of multiple vertebral fractures even in patients with low fracture risk after discontinuation of denosumab, emphasizing the importance of switching to another antiresorptive therapy immediately.
ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
(2021)
Article
Biochemistry & Molecular Biology
Rebecca K. Dirkes, Nathan C. Winn, Thomas J. Jurrissen, Dennis B. Lubahn, Victoria J. Vieira-Potter, Jaume Padilla, Pamela S. Hinton
Summary: The study found that in male mice, ERKO has a positive impact on bone density, with exercise having little effect. ERKO has a negative impact on cortical geometry, but exercise can partially reverse this effect. Neither ERKO nor exercise have an effect on sclerostin expression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Fisheries
Yinjun Jiang, Hongrui Luo, Mingxi Hou, Ji Chen, Binbin Tao, Zuoyan Zhu, Yanlong Song, Wei Hu
Summary: This study developed an artificial method for inducing sex change in rice field eels, converting female eels into functional males, and measured physiological parameters and gene expression during the process. The results demonstrated that endogenous estrogen synthesis plays a key role in the sex change of rice field eels, highlighting the importance of this method in breeding rice field eels.
Article
Endocrinology & Metabolism
Taihu Wan, Yuhang Zhu, Qinghe Han, Lin Liu
Summary: The study found that spinal marrow fat content significantly increased in postmenopausal women with hormone-receptor-positive breast cancer receiving AI treatment over a 12-month period.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Biophysics
Jay K. Shridharani, Maria A. Ortiz-Paparoni, Joost Op 't Eynde, Cameron R. Bass
Summary: Understanding the initiation of bony failure is crucial for assessing bone fracture progression. The use of acoustic emissions to identify fractures can provide more sensitivity than traditional methods. Differentiating bone failure from structural response in biomechanical testing can be achieved by characterizing localized acoustic emission responses.
JOURNAL OF BIOMECHANICS
(2021)
Article
Endocrinology & Metabolism
Lindsay L. Loundagin, Kim D. Harrison, Xuan Wei, David M. L. Cooper
Summary: This study developed new techniques to define zones of BMU activity based on the 3D morphology of remodeling spaces in rabbit cortical bone and integrated morphological data with the BMU longitudinal erosion rate (LER) to elucidate the spatial-temporal coordination of BMUs and estimate mineral apposition rate (MAR). The results showed that the manual and semi-automated methods accurately defined the zones of remodeling spaces, and these techniques have the potential to assess dynamic parameters of bone resorption and formation.
Article
Multidisciplinary Sciences
Jun Sun, Lingling Hu, Seoyeon Bok, Alisha R. Yallowitz, Michelle Cung, Jason McCormick, Ling J. Zheng, Shawon Debnath, Yuzhe Niu, Adrian Y. Tan, Sarfaraz Lalani, Kyle W. Morse, Daniel Shinn, Anthony Pajak, Mohammed Hammad, Vincentius Jeremy Suhardi, Zan Li, Na Li, Lijun Wang, Weiguo Zou, Vivek Mittal, Mathias P. G. Bostrom, Ren Xu, Sravisht Iyer, Matthew B. Greenblatt
Summary: A study has identified a distinct type of spinal skeletal stem cells that play a crucial role in vertebral bone formation and contribute to the high rate of metastasis observed in breast cancer and other solid tumors.
Article
Endocrinology & Metabolism
Gerhard Binder, Akie Nakamura, Roland Schweizer, Tsutomu Ogata, Maki Fukami, Keisuke Nagasaki
Summary: The study on the long-term treatment effects of aromatase inhibitor in boys with AEXS showed that early initiation of anastrozole treatment can promote adult height in these patients, suggesting a potential benefit of long-term inhibition of aromatase.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Oncology
Alyssa Streff, Michele Chu-Pilli, Alison Stopeck, Pavani Chalasani
Summary: The study indicates that vaginal estrogen preparation, Estring, may be a safe option for postmenopausal women with hormone receptor-positive breast cancer who have persistent urogenital symptoms.
SUPPORTIVE CARE IN CANCER
(2021)
Article
Neurosciences
Alev Selek, Zehra Seda Unal Halbutogullari, Cigdem Inci Aydemir, Berrin Cetinarslan, Zeynep Canturk, Ilhan Tarkun, Gulay Erman, Cansu Subasi, Karaoz Erdal
Summary: This study investigates the potential of using an aromatase inhibitor as a substitute for testosterone in treating prolactinomas. The findings reveal that the aromatase inhibitor can inhibit cell proliferation and induce apoptosis in prolactinoma cells, as well as reduce prolactin and estrogen levels.
MOLECULAR NEUROBIOLOGY
(2023)
Review
Endocrinology & Metabolism
Outi Makitie, M. Carola Zillikens
Summary: Osteoporosis is a skeletal disorder affecting mainly the elderly, characterized by low bone density and fragility fractures. In children and young adults, investigations should explore the possibility of underlying monogenetic bone diseases when fragility fractures occur. Management involves treating secondary factors, optimizing lifestyle factors, and discussing personalized bone-active medication based on severity of osteoporosis and underlying diseases.
CALCIFIED TISSUE INTERNATIONAL
(2022)
Article
Pediatrics
Anna Kivi, Marjo Metsaranta, Sanna Toiviainen-Salo, Sampsa Vanhatalo, Leena Haataja
Summary: The study found that most infants with perinatal asphyxia, with or without HIE, showed atypical neurological findings in sequential examinations. White matter T2 hyperintensity was significantly associated with atypical spontaneous movements in the HINE.
Article
Endocrinology & Metabolism
Heta Huttunen, Tero Varimo, Hanna Huopio, Raimo Voutilainen, Sirpa Tenhola, Paivi J. Miettinen, Taneli Raivio, Matti Hero
Summary: In puberty promoting treatment, growth response is tightly correlated with serum testosterone level. Serum testosterone level is the best predictor of growth velocity in both treatment groups. In the Lz-group, adding serum oestradiol to the model significantly improved the growth estimate. Only boys with serum oestradiol above 10 pmol/L had a growth velocity above 8 cm/year.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Fahad Aljuraibah, Justine Bacchetta, Maria Luisa Brandi, Pablo Florenzano, Muhammad K. Javaid, Outimaija Makitie, Adalbert Raimann, Mariano Rodriguez, Heide Siggelkow, Dov Tiosano, Marc Vervloet, Carsten A. Wagner
Summary: Chronic hypophosphatemia, characterized by low phosphate levels, can lead to underrecognition and poor clinical outcomes. Understanding phosphate homeostasis and early diagnosis are crucial for optimal management and improved health outcomes.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Public, Environmental & Occupational Health
Samuel Sandboge, Juho Kuula, Johan Bjorkqvist, Petteri Hovi, Outi Makitie, Eero Kajantie
Summary: Individuals born with very low birthweight have lower bone mineral density and content compared to term-born siblings, partially explained by their smaller body size, but genetic or environmental factors also play a role.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2022)
Article
Genetics & Heredity
Katri Rajala, Ellamaija Kasanen, Sanna Toiviainen-Salo, Helena Valta, Outi Makitie, Vedran Stefanovic, Laura Tanner
Summary: This retrospective cohort study aimed to describe the genetic spectrum of fetal skeletal dysplasias in a Finnish patient cohort and evaluate the diagnostic yield of various analysis methods. The study found that Finnish founder mutations play a significant role in skeletal dysplasias, suggesting potential differences in the genetic spectrum between populations.
PRENATAL DIAGNOSIS
(2022)
Article
Endocrinology & Metabolism
Riikka E. Maekitie, Sanna Toiviainen-Salo, Ilkka Kaitila, Outi Maekitie
Summary: This study reports a rare form of osteochondrodysplasia in a Finnish family, characterized by abnormal codfish-shaped vertebrae, severe early-onset osteoarthritis, and empty sella syndrome, associated with a mutation in the TBX2 gene.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Alice Costantini, Riikka E. Makitie, Markus A. Hartmann, Nadja Fratzl-Zelman, M. Carola Zillikens, Uwe Kornak, Kent Soe, Outi Makitie
Summary: Early-onset osteoporosis (EOOP) is a disease that affects children, premenopausal women, and men aged <50 years. It may be caused by various factors such as chronic illness, medication, and nutritional deficiencies. Genetic variants in key genes play a crucial role in the pathogenesis of EOOP. The diagnosis and genetic diagnosis of EOOP are complex and require comprehensive assessments. Rare monogenic forms of EOOP are mainly associated with gene defects in the WNT pathway.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Helena H. Hauta-alus, Elisa M. Holmlund-Suila, Saara M. Valkama, Maria Enlund-Cerullo, Jenni Rosendahl, Ryan F. Coghlan, Sture Andersson, Outi Makitie
Summary: This study examines the relationship between Collagen X biomarker (CXM) and linear growth rate and bone development, as well as the modifying effects of vitamin D supplementation. The findings suggest that CXM is related to linear growth velocity during the second year of life but not to bone development. Furthermore, higher CXM levels in infants receiving higher vitamin D supplementation are associated with an accelerated growth rate in length.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Emilia Traskila, Elina Holopainen, Mikko I. Mayranpaa, Jorma Toppari, Outi Makitie, Saila Laakso
Summary: The aim of this study was to investigate the puberty and hypogonadism in males with APECED. Forty-three males were followed up until adulthood, and the onset of spontaneous puberty was found to occur at a median age of 13.3 years. Testosterone medication was used to promote pubertal development in some patients. The study also identified hypogonadism and azoospermia in a subset of patients.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Joonatan Borchers, Eero Pukkala, Outi Makitie, Saila Laakso
Summary: This study examined the incidence and causes of primary adrenal insufficiency in Finnish children. The findings showed a high incidence rate in the first year of life, with a significant gender difference. Congenital adrenal hyperplasia was the most common cause among patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Freja Pontan, Helena Hauta-alus, Saara Valkama, Jenni Rosendahl, Maria Enlund-Cerullo, Sture Andersson, Outi Makitie, Elisa Holmlund-Suila
Summary: This study investigated the concentrations of alkaline phosphatase (ALP) and the prevalence of hyperphosphatasemia in healthy children, and their association with vitamin D, growth, infections, and bone parameters. It was found that boys had higher ALP levels than girls, and hyperphosphatasemia was more common at 12 months. Hyperphosphatasemia was associated with body size, growth rate, and bone mineralization, but not with infections.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Genetics & Heredity
Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outi Makitie
Summary: Polydactyly is a rare genetic disorder characterized by the duplication of digits in the hands and feet. This study identified novel and known genetic variants in two Pakistani families with autosomal recessive postaxial polydactyly type A (PAPA) and demonstrated the abnormal function of the proteins associated with the disease phenotype. These findings expand our understanding of the genetic causes of polydactyly and provide implications for genetic counseling in affected families.
Meeting Abstract
Endocrinology & Metabolism
Susann Karlberg, Sanna Toiviainen-Salo, Marita Lipsanen-Nyman, Outi Makitie
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Article
Endocrinology & Metabolism
Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala-Mello, Outi Makitie, Alice Costantini
Summary: Mosaicism, caused by AMER1 and RUNX2 gene variants, was identified using whole-genome sequencing in two clinically diagnosed patients with skeletal disorders. This study sheds light on the importance of considering mosaicism in unresolved cases of skeletal dysplasia.