Review
Endocrinology & Metabolism
Tsuyoshi Isojima, Susumu Yokoya
Summary: Turner syndrome is a chromosomal disorder in females characterized by short stature and gonadal dysgenesis. Girls with untreated TS are significantly shorter than the general population and their growth patterns differ. Growth hormone therapy and estrogen replacement treatment are essential for optimal growth and development in these girls. This review discusses overall growth, pubertal growth, secular trend, growth-promoting treatment, and hormone replacement treatment in girls with Turner syndrome.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Neurosciences
Vanessa Lozano Wun, Lara C. Foland-Ross, Booil Jo, Tamar Green, David Hong, Judith L. Ross, Allan L. Reiss
Summary: Turner syndrome (TS) is a common sex chromosome abnormality in females, causing various physical, cognitive, and socio-emotional characteristics. This study investigated the effects of TS on the development of cortical gray matter volume, thickness, and surface area in the brain. The results revealed both direct and indirect effects of X-monosomy on brain development in TS, with differences observed in various brain regions. These findings provide valuable insights into the understanding of TS-associated alterations in brain structure.
HUMAN BRAIN MAPPING
(2023)
Article
Medicine, General & Internal
David Rodriguez-Buritica, Meaghan Mones, Siddharth K. Prakash, Michelle Rivera, Melissa Aldrich, Megan Rogge, Kate Richardson
Summary: This study found that skin conditions are highly prevalent in Turner syndrome patients during the early decades of life, highlighting the importance of utilizing these conditions in the diagnostic process and emphasizing the need for specialized dermatology referrals to address the detrimental impacts on quality of life.
FRONTIERS IN MEDICINE
(2023)
Article
Endocrinology & Metabolism
Monika Obara-Moszynska, Lukasz Dzialach, Barbara Rabska-Pietrzak, Marek Niedziela, Karina Kapczuk
Summary: Most girls and women with Turner syndrome require estrogen replacement therapy for pubertal development. Uterine growth promotion is a fundamental effect of ERT in hypogonadism. Pubertal induction in patients with TS results in a significant increase in uterine volume, but the mature uterus is smaller compared to the healthy population.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Ewa Blaszczyk, Anna-Mariia Shulhai, Joanna Gieburowska, Kamil Baranski, Aneta Monika Gawlik
Summary: Long-term growth hormone treatment affects the carbohydrate metabolism parameters in girls with Turner syndrome. Blood glucose levels significantly increase in the first five years of therapy, but decrease during treatment. Insulin resistance and carbohydrate metabolism impairment are more prominent during growth hormone therapy.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Berit Kristrom, Carina Ankarberg-Lindgren, Marie-Louise Barrenas, Karl Olof Nilsson, Kerstin Albertsson-Wikland
Summary: This study aimed to investigate the impact of GH dose and age at GH start on height, age at pubertal onset, and adult height in girls with Turner syndrome (TS). The results showed that both young and old TS girls had a growth response to GH dose, and the younger girls had less delayed age at pubertal onset and adult height. All four groups achieved a normal range of adult height, despite losing some height gain during puberty.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Naincy Purwar, Pradeep Tiwari, Nitish Mathur, Himanshu Sharma, Rahul Sahlot, Umesh Garg, Balram Sharma, Aditya Saxena, Sandeep K. Mathur
Summary: This study used chromosomal microarray to elucidate high-resolution chromosomal patterns and analyze genotype-phenotype associations in girls with the clinical phenotype of Turner syndrome (TS). The results showed that copy number variations (CNVs) on autosomes were more common than on the X chromosome, with CNVs detected on chromosome 14 and X in a large percentage of patients. Functional interactions between genes in chromosome 14 CNVs and known TS-associated genes were identified, revealing a potential common genomic network underlying the TS phenotype. This suggests that CNV defects in autosomes, particularly chromosome 14 or X, may play a role in the clinical presentation of TS, warranting further investigation.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Psychology, Developmental
M. Klabunde, A. Piccirilli, J. Bruno, M. Gendron, A. L. Reiss
Summary: By studying empathic accuracy and control tasks in girls with Turner Syndrome, it was found that they showed differences in empathic accuracy ratings for negative emotional videos, but not for positive videos or control tasks. These findings suggest impaired detection of negatively valanced empathic interactions in girls with Turner Syndrome.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Endocrinology & Metabolism
Lindsey C. McVey, Alexander Fletcher, Mohammed Murtaza, Malcolm Donaldson, Sze Choong Wong, Avril Mason
Summary: Short stature in Turner syndrome may be accompanied by skeletal disproportion. Girls with severe short stature are more likely to have skeletal disproportion, but only half of those with milder degrees of short stature. Growth-promoting therapy may improve disproportion during both childhood and pubertal growth phases.
CLINICAL ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Jovanna Dahlgren, Kerstin Albertsson-Wikland
Summary: Both prepubertal NS-children and TS-girls had a high GH secretion, but low IGFI/IGFBP3 levels only in NS-children. Both groups presented a broad individual response. NS-children showed higher response in IGFI and growth, pointing to higher responsiveness to GH treatment than TS-girls.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Lauren Johnston, Ruth Allen, Pauline Hall Barrientos, Avril Mason, Asimina Kazakidi
Summary: Girls and women with Turner syndrome (TS) have congenital abnormalities that increase their risk of cardiovascular disease, with obesity and hypertension as contributing factors. Computational fluid dynamics simulations showed differences in aortic blood flow characteristics between TS girls and healthy counterparts, suggesting potential early onset of atherosclerosis in TS patients. Factors such as age, obesity, and aortic morphology play a crucial role in assessing cardiovascular risk in TS children.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Endocrinology & Metabolism
Nandini Vijayakanthi, David J. Marcus, Sobha P. Fritz, Yijin Xiang, Doris Fadoju
Summary: The study found that girls with Turner syndrome have lower scores in appearance orientation and self classified weight compared to their peers, while slightly higher scores in body areas satisfaction and overweight preoccupation, though not statistically significant. Girls with classic 45X karyotype and those who were overweight or obese had lower scores in appearance evaluation and appearance orientation.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Kenny A. A. Rodriguez-Wallberg, Fotios Sergouniotis, Hanna P. P. Nilsson, Frida E. E. Lundberg
Summary: By studying the infertility risks of Turner syndrome patients and providing appropriate fertility preservation counseling, the chances of fertility preservation can be improved.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Tommaso Aversa, Domenico Corica, Giorgia Pepe, Giovanni B. Pajno, Mariella Valenzise, Maria F. Messina, Malgorzata Wasniewska
Summary: Pubertal induction in TS patients should start at 11-12 years of age, using transdermal 1713-E2 as the first-choice regimen. Dose should be gradually increased until reaching adult levels, with progestin added based on individual response. Well-designed clinical trials are needed to determine the optimal estrogen regimen for pubertal induction in TS girls.
MINERVA ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Sunetra Mondal, Piyas Gargari, Lakshmi Nagendra, Santanu Mandal, Rathin C. C. Kumar, Pooja Shah, Mandira Haldar, Subhankar Chowdhury, Satinath Mukhopadhyay
Summary: Adult women with Turner syndrome have high rates of miscarriage due to abnormal uterus size and shape. This study explored the determinants of uterine volume in young girls with Turner syndrome before estrogen replacement therapy and found that growth hormone therapy has a positive effect on uterine dimensions. Earlier initiation and longer duration of growth hormone therapy were associated with normal uterine volume in these girls.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Developmental Biology
Leticia R. de Oliveira, Carlos A. Longui, Guilherme Guaragna-Filho, Jose L. da Costa, Rafael Lanaro, Maria I. Chiamolera, Maricilda P. de Mello, Andre M. Morcillo, Andrea T. Maciel-Guerra, Gil Guerra-Junior
Summary: This study aimed to determine a testosterone (T) cutoff level using LC-MS/MS after stimulation with recombinant human chorionic gonadotropin (rhCG) in the evaluation of gonadal steroidogenesis in patients with 46,XY disorders of sex development (DSD).
SEXUAL DEVELOPMENT
(2023)
Article
Developmental Biology
Julia P. Vicentin, Mayra de Souza El Beck, Carlos W. Germano, Juliana G. R. Andrade, Beatriz A. Barros, Roberto B. Silva, Marcio L. Miranda, Nilma L. Viguetti-Campos, Tarsis A. P. Vieira, Tais N. Mazzola, Mara S. Guaragna, Helena Fabbri-Scallet, Maricilda P. Mello, Antonia P. Marques-de-Faria, Andrea T. Maciel-Guerra, Gil Guerra-Junior
Summary: This retrospective study aimed to verify the association between the time of diagnosis and initial and final sex assignment in a disorder of sex development (DSD) group. The results showed that while there were no changes in sex assignment proportions, there was an increased awareness of the need for early referral and changes in clinical, cytogenetic, and diagnostic aspects.
SEXUAL DEVELOPMENT
(2023)
Article
Developmental Biology
Helena Fabbri-Scallet, Ralf Werner, Mara S. Guaragna, Juliana G. R. de Andrade, Andrea T. Maciel-Guerra, Nadine C. Hornig, Olaf Hiort, Gil Guerra-Junior, Maricilda P. de Mello
Summary: NR5A1 is a crucial transcription factor involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for diverse sex development disorders. Through molecular studies, we discovered four variants in the NR5A1 non-coding region in three patients with 46,XY sex development disorder. In vitro analyses demonstrated the impact of these variants on promoter activity. Whole exome sequencing also identified variants in SRA1, WWOX, and WDR11 genes. This study highlights the importance of careful molecular analysis of the neglected NR5A1 non-coding region, which may explain some cases of idiopathic sex development disorders.
SEXUAL DEVELOPMENT
(2023)
Review
Immunology
Alice Abend Bardagi, Clarissa dos Santos Paschoal, Giovanna Ganem Favero, Luisa Riccetto, Maria Luisa Alexandrino Dias, Gil Guerra Junior, Giovanna Degasperi
Summary: Adipose tissue is an endocrine organ that secretes important hormones like leptin. Leptin not only controls satiety, but also regulates immune responses. Leptin receptors have been found in the bone marrow, playing a crucial role in hematopoiesis.
IMMUNOLOGICAL INVESTIGATIONS
(2023)
Article
Education, Special
F. Bertapelli, K. Pitetti, G. Guerra-Junior
Summary: This study found that muscular strength is associated with total and central adiposity in adolescents with intellectual disability. Higher muscular strength is correlated with lower levels of fat.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2023)
Article
Genetics & Heredity
Flavia Marcorin de Oliveira, Beatriz Amstalden Barros, Ana Paula dos Santos, Nilma Lucia Viguetti Campos, Tais Nitsch Mazzola, Paulo Latuf Filho, Liliana Aparecida Lucci De Angelo Andrade, Mara Sanches Guaragna, Maricilda Palandi de Mello, Gil Guerra-Junior, Tarsis Antonio Paiva Vieira, Andrea Trevas Maciel-Guerra
Summary: This article reports on two siblings with atypical genitalia, with the boy being confirmed to have ovotesticular disorders of sex development (OT-DSD) and the girl having bilateral ovaries. The study found a 737-kb duplication at Xq27.1, including the entire SOX3 gene, in both siblings. These findings support the pathogenic role of SOX3 overexpression in 46,XX individuals leading to variable DSD phenotypes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Ana Paula Francese-Santos, Jakob A. Meinel, Cristiane S. C. Piveta, Juliana G. R. Andrade, Beatriz A. Barros, Helena Fabbri-Scallet, Vera Lucia Gil-da-Silva-Lopes, Gil Guerra-Junior, Axel Kuenstner, Hauke Busch, Olaf Hiort, Maricilda P. de Mello, Ralf Werner, Andrea T. Maciel-Guerra
Summary: We report a girl with 46,XY partial gonadal dysgenesis who carries a 297 kb duplication at Xp21.2 upstream of the NR0B1 gene. This is the first description of an Xp21.2 duplication upstream of NR0B1 associated with 46,XY partial gonadal dysgenesis. The fine mapping of the breakpoints revealed a tandem duplication of TASL (CXorf21), GK, and partially TAB3.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Nutrition & Dietetics
Raiany Rosa Bergamo, Mauro Alexandre Pascoa, Jefferson Eduardo Hespanhol, Anderson Marques de Moraes, Gil Guerra-Junior
Summary: This study evaluated the association between food consumption and body composition with bone parameters in adolescent soccer players. The results showed that lean mass was a predictor of bone parameters, and high protein intake was negatively associated with bone mass and geometry.
Article
Endocrinology & Metabolism
Cleliani de Cassia da Silva, Mariana Porto Zambon, Ana Carolina Junqueira Vasques, Daniella Fernandes Camilo, Maria angela Reis de Goes Monteiro Antonio, Bruno Geloneze
Summary: This study aimed to validate the homeostasis model assessment (HOMA) of insulin resistance (IR) as a surrogate to the hyperglycemic clamp to measure IR in both pubertal and postpubertal adolescents, and determine the HOMA-IR cutoff values for detecting IR in both pubertal stages. The HOMA-IR was found to be negatively associated with the clamp-derived insulin sensitivity index in both pubertal and postpubertal adolescents. The HOMA-IR showed a good discriminatory power for detecting IR, and the optimal cutoff values for detecting IR were > 3.22 for pubertal and > 2.91 for postpubertal adolescents.
ARCHIVES OF ENDOCRINOLOGY METABOLISM
(2023)
Article
Endocrinology & Metabolism
Carolina Trombeta Reis, Marina Cruvinel Macedo, Andre Moreno Morcillo, Gil Guerra-Junior, Sofia Helena Valente de Lemos-Marini
Summary: This study aimed to analyze the association between anthropometric factors, physical appearance, and quality of life in Turner syndrome (TS) women. The results showed that dissatisfaction with height and physical appearance was related to lower scores in mental health and role emotional domains. Participants who desired to change their physical appearance had higher scores in the mental component, social function, and mental health domains. Therefore, there is a need to develop and validate an official questionnaire to assess how specific characteristics of TS interfere with the quality of life in more detail.
ARCHIVES OF ENDOCRINOLOGY METABOLISM
(2023)
Article
Biology
Felipe Rodrigues de Oliveira, Tais Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V. de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scallet
Summary: The group of disorders known as 46,XY gonadal dysgenesis (GD) includes complete and partial GD (PGD) and testicular regression syndrome (TRS). DHX37 gene variants were identified as a cause of PGD and TRS, indicating its importance in sex development disorders. Variants in DHX37 were found in 4 out of 25 individuals with 46,XY DSD, suggesting a potential role of DHX37 in testis development.
Article
Developmental Biology
Guilherme Guaragna-Filho, Gil Guerra-Junior, Rieko Tadokoro-Cuccaro, Ieuan A. Hughes, Beatriz A. Barros, Olaf Hiort, Antonio Balsamo, Tulay Guran, Paul M. Holterhus, Sabine Hannema, Sukran Poyrazoglu, Feyza Darendeliler, Jillian Bryce, S. Faisal Ahmed, Charmian A. Quigley
Summary: This study evaluated the practice of assigning female gender to 46, XY infants with limited virilization, particularly in the case of partial androgen insensitivity syndrome (PAIS). The results showed that female assignment is becoming less common in PAIS and there is no evidence to support prophylactic prepubertal gonadectomy in reducing the risk of germ cell tumor.
SEXUAL DEVELOPMENT
(2023)
Article
Endocrinology & Metabolism
Juliano Henrique Borges, Daniela Albiero Camargo, Leticia Esposito Sewaybricker, Renata Isa Santoro, Daniel Minutti de Oliveira, Sofia Helena Valente de Lemos-Marini, Bruno Geloneze, Gil Guerra-Junior, Ezequiel Moreira Goncalves
Summary: This study compared ambulatory blood pressure (ABP) between young adults with congenital adrenal hyperplasia (CAH) and a control group. The results showed no differences in systolic BP, diastolic BP, and pulse pressure between the two groups. Additionally, there were no associations between glucocorticoid dose, androgen levels, and ABP parameters.
ARCHIVES OF ENDOCRINOLOGY METABOLISM
(2023)
Review
Developmental Biology
Beatriz Amstalden Barros, Mara Sanches Guaragna, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Junior, Andrea Trevas Maciel-Guerra
Summary: This study aimed to search for NR5A1 variants in SRY-negative 46,XX OT-DSD patients and perform a systematic review on the contribution of NR5A1 variations to 46,XX OT-DSD. Pathogenic variants of NR5A1 were not found in our patients. Further molecular investigations are important as the etiology of most 46,XX OT-DSD cases remains elusive.
SEXUAL DEVELOPMENT
(2023)
Article
Biophysics
Nubia Maria Oliveira, Aryanne Hydeko Fukuoka, Catarina Nunes Matias, Gil Guerra-Junior, Ezequiel Moreira Goncalves
Summary: This study aimed to investigate the use of bioelectrical muscle localized phase angle (ML-PhA) and whole body phase angle (WB-PhA) as indicators of muscle power and strength in active young women. The results showed that both ML-PhA and WB-PhA may serve as markers of muscle power in this population.
PHYSIOLOGICAL MEASUREMENT
(2023)