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)
Review
Endocrinology & Metabolism
Yukihiro Hasegawa, Tomonobu Hasegawa, Mari Satoh, Kento Ikegawa, Tomoyo Itonaga, Marie Mitani-Konno, Masanobu Kawai
Summary: Delayed and absent puberty and infertility in Turner syndrome are caused by primary hypogonadism. Estrogen replacement therapy (ERT) is necessary for patients with Turner syndrome before they are young adults. A new therapeutic approach using a transdermal estradiol patch is suggested to mimic incremental increases in physiological estradiol for pubertal induction in Turner syndrome.
FRONTIERS IN ENDOCRINOLOGY
(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)
Review
Endocrinology & Metabolism
Giuseppa Patti, Marco Scaglione, Nadia Gabriella Maiorano, Giulia Rosti, Maria Teresa Divizia, Tiziana Camia, Elena Lucia De Rose, Alice Zucconi, Emilio Casalini, Flavia Napoli, Natascia Di Iorgi, Mohamad Maghnie
Summary: In this narrative review, the authors summarized the available data on puberty and gonadal function in Noonan syndrome (NS) subjects and discussed the role of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway in fertility. NS patients tend to have a delay in puberty onset compared to healthy children, and males with NS are at risk of gonadal dysfunction due to factors including cryptorchidism, the MAP/MAPK pathway, and genetics. Long-term studies on a large cohort of NS patients are needed to better understand the impact of delayed puberty on adult height, metabolic profile, and well-being. Genetic counseling and fertility-related issues are crucial.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Zana Bumbuliene, Diana Buzinskiene, Greta Banuskeviciene, Evelina Sidlovska, Egle Preiksaitiene, Algirdas Utkus
Summary: This case report presents a female patient with 46,XY difference of sexual development (DSD) and discusses the challenges in differentiating between complete gonadal dysgenesis and complete androgen insensitivity syndrome. The case highlights the importance of accurate diagnosis for determining treatment plans and preventing the risk of malignancy.
MEDICINA-LITHUANIA
(2022)
Article
Genetics & Heredity
Umut Altunoglu, Esra Borklu, Anju Shukla, Nathalie Escande-Beillard, Susanne Ledig, Hulya Azakli, Shalini S. Nayak, Serpil Eraslan, Katta Mohan Girisha, Ingo Kennerknecht, Hulya Kayserili
Summary: Homozygous variants in PPP2R3C gene can cause a syndromic 46,XY complete gonadal dysgenesis phenotype, while heterozygous variants may lead to reduced fertility in males. The study described patients from Turkish and Indian descent, including both 46,XX and 46,XY affected individuals displaying various external genital phenotypes.
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
Charmian A. Quigley, Patricia Y. Fechner, Mitchell E. Geffner, Erica A. Eugster, Judith L. Ross, Reema L. Habiby, Figen Ugrasbul, Karen Rubin, Sharon Travers, Caryl J. Antalis, Hiren N. Patel, Marsha L. Davenport
Summary: Girls who received growth hormone treatment early in life showed significant catch-up growth compared to untreated girls, but the differences in height were not significant at near-adult height. Most participants achieved a final height within the normal range, with height at near-adult height strongly correlated with height at the start of treatment.
HORMONE RESEARCH IN PAEDIATRICS
(2021)
Article
Endocrinology & Metabolism
Luca Persani, Marco Bonomi, Martine Cools, Mehul Dattani, Leo Dunkel, Claus H. Gravholt, Anders Juul
Summary: The differential diagnoses of pubertal delay, including hypergonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, and constitutional delay of growth and puberty, can be challenging. Adequate and timely management is critical for optimal clinical and psychosocial outcomes of pubertal delay disorders.
Article
Environmental Sciences
Izabela Winkler, Ilona Jaszczuk, Marek Gogacz, Piotr Szkodziak, Tomasz Paszkowski, Katarzyna Skorupska, Michal Ciebiera, Maciej Skrzypczak
Summary: This case report demonstrates that patients with Swyer syndrome can achieve successful twin pregnancies through assisted reproduction. While the pregnancies may proceed without major issues, there are potential risks associated, highlighting the importance of systematic management for such cases.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Obstetrics & Gynecology
Karen Weisshaupt, Wolfgang Henrich, Joerg Neymeyer, Alexander Weichert
Summary: For women with Swyer Syndrome, Caesarean section is a common delivery method based on literature, but spontaneous delivery can be attempted in the event of inconspicuous findings. Reasons for elective Caesarean section include multiple pregnancies, preeclampsia, and an androgynous shaped pelvis, as well as maternal request.
JOURNAL OF PERINATAL MEDICINE
(2021)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Pediatrics
Rujiang Zheng, Qiuli Chen, Huamei Ma, Juncheng Liu, Huadong Chen, Jianbo Liang, Hongshan Chen, Jun Zhang, Yanhong Li, Song Guo, Bing Wang, Minlian Du
Summary: We report a rare case of bilateral HCG-secreting gonadoblastomas in a 5.25-year-old girl with Turner syndrome and gonadal Y chromosome mosaicism. The patient initially presented with enlarged breasts and later developed virilization symptoms. The importance of serum beta-HCG and AFP detection for the diagnosis of precocious puberty, as well as the presence of Y chromosome and occurrence of gonadal tumors in Turner syndrome, is emphasized.
FRONTIERS IN PEDIATRICS
(2022)
Article
Endocrinology & Metabolism
Estera Zagojska, Magdalena Malka, Adrianna Gorecka, Iwona Ben-Skowronek
Summary: This paper reports a rare case of adrenocortical carcinoma in a girl and reviews relevant literature. The case presented with rapidly progressing precocious puberty and signs of Cushing's syndrome. The diagnosis of adrenocortical carcinoma was confirmed through imaging and histopathologic evaluation. The study highlights the importance of considering the possibility of adrenocortical carcinoma in children with symptoms of precocious puberty and Cushing's syndrome and suggests a comprehensive treatment approach for the disease.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Tahereh Ashraf Ganjooei, Zanbagh Pirastehfar, Asieh Mosallanejad, Masoomeh Raoufi, Noushin Afshar Moghaddam, Mozhgan Hashemieh
Summary: Swyer syndrome is a condition characterized by pure gonadal dysgenesis and primary amenorrhea. This article reports a case of a 15-year-old girl diagnosed with Swyer syndrome and associated with left ovarian dysgerminoma.
CLINICAL CASE REPORTS
(2022)
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
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
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)