Article
Pediatrics
Haibo Li, Aman Zhao, Min Xie, Linqi Chen, Haiying Wu, Yiping Shen, Hongying Wang
Summary: This study presents a case of an infant with Antley-Bixler syndrome carrying compound heterozygotic mutations in the POR gene, including a common missense mutation from the father and a novel microdeletion from the mother. While the missense mutation is well-known, the novel microdeletion is classified as pathogenic based on ACMG guidelines. This case enriches our understanding of the POR mutation spectrum and the pathogenesis of ABS.
TRANSLATIONAL PEDIATRICS
(2021)
Article
Genetics & Heredity
Xianda Wei, Guori Huang, Baoheng Gui, Bobo Xie, Shaoke Chen, Xin Fan, Yujun Chen
Summary: This study investigated the clinical and genetic evaluation of Crouzon syndrome in a large pedigree. It found that the variability of clinical features among familial patients was slighter than that in previously reported sporadic cases.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Cell & Tissue Engineering
Xiaoling Guo, Dexuan Wang, Xiaoou Shan, Liang Yang, Yinjuan Ding, Huihui Chen, Xing Rong, Maoping Chu, Jian Lin, Congde Chen
Summary: In this study, UCs from a 5-year-old female ABS patient were reprogrammed into iPSCs, which expressed pluripotent markers and could be induced to differentiate into three germ layers in vitro while maintaining a stable karyotype.
STEM CELL RESEARCH
(2021)
Article
Endocrinology & Metabolism
Katherine Buchanan, Erin Greenup, Anna C. E. Hurst, Bhuvana Sunil, Ambika P. Ashraf
Summary: This article describes the elevated 11KT levels in patients with Wiedemann-Steiner Syndrome (WSS) and suggests that the increased adrenal androgenic activation may contribute to the advanced bone age observed in some WSS patients. This is the first case report to propose 11KT as a potential cause of bone age advancement in WSS.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Clinical Neurology
Rosalinda Calandrelli, Fabio Pilato, Luca Massimi, Gabriella D'Apolito, Cesare Colosimo
Summary: The study evaluated the role of FGFR2 mutations and sutural synostotic patterns on facial skeleton dysmorphology in children with syndromic craniosynostosis using preoperative high-resolution CT images. The results showed that FGFR2 mutations worsen facial hypoplasia and affect bone development, leading to earlier premature closure of facial sutures. The study concluded that both skull base and facial suture synostosis contribute to facial dysmorphology in children with syndromic craniosynostosis.
CHILDS NERVOUS SYSTEM
(2023)
Article
Surgery
Chenzhi Lai, Bo Pan, Guodong Song, Xianlei Zong, Zuoliang Qi, Xiaolei Jin
Summary: Crouzon syndrome, with a prevalence of 1 in 65,000 individuals, is associated with variants in the FGFR2 gene. This study presents a case of Crouzon syndrome treated with fronto-orbital advancement and cranial cavity expansion, resulting in satisfactory outcomes.
JOURNAL OF CRANIOFACIAL SURGERY
(2022)
Article
Endocrinology & Metabolism
Alexandre Dormoy, Magalie Haissaguerre, Geraldine Vitellius, Christine Do Cao, Aurore Geslot, Delphine Drui, Helene Lasolle, Oceana Vieira-Pinto, Sylvie Salenave, Maud Francois, Marie Puerto, Helene Du Boullay, Anne Mayer, Anne Rod, Claire Laurent, Philippe Chanson, Yves Reznik, Frederic Castinetti, Olivier Chabre, Eric Baudin, Gerald Raverot, Antoine Tabarin, Jacques Young
Summary: This study evaluated the efficacy and safety of osilodrostat in patients with PNCS/EAS in France, and found that osilodrostat had significant efficacy in reducing hypercortisolism symptoms in these patients and was generally well tolerated.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Clinical Neurology
Cassio Eduardo Raposo-Amaral, Yuri Moresco Oliveira, Rafael Denadai, Cesar Augusto Raposo-Amaral, Enrico Ghizoni
Summary: Crouzon syndrome is a rare form of syndromic craniosynostosis characterized by premature fusion of cranial and facial sutures, high intracranial pressure, and ocular exposure due to exorbitism. A case of Crouzon syndrome with atypical characteristics such as craniolacunae and upper and lower extremity anomalies more commonly associated with Pfeiffer syndrome patients is presented. Accurate genotype diagnosis is essential for distinguishing between these syndromes and providing predictors for neurosurgical complications and appropriate family counseling.
CHILDS NERVOUS SYSTEM
(2021)
Article
Genetics & Heredity
Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet, Angelica Pagliazzi, Giovanna Traficante, Marilena Pantaleo, Lucia Tiberi, Debora Vergani, Nehir Edibe Kurtas, Silvia Guarducci, Sara Bargiacchi, Giulia Forzano, Rosangela Artuso, Viviana Palazzo, Ada Kura, Flavio Giordano, Daniele di Feo, Marzia Mortilla, Claudio De Filippi, Gianluca Mattei, Livia Garavelli, Betti Giusti, Lorenzo Genitori, Orsetta Zuffardi, Sabrina Giglio
Summary: The study found that the frequency of Type 1 Chiari malformation is widely underestimated, with some variants inherited from parents with C1M. This condition is mostly inherited in a dominant manner, and alterations in genes that regulate chromatin architecture may cause localized anatomical changes and symptoms of varying degrees.
Article
Medicine, General & Internal
Ana Losa, Juliana Da Silva Cardoso, Sara Leite, Ana Cristina Barros, Ana Guedes, Cidade Rodrigues, Teresa Borges, Natalia Oliva-Teles, Ana Rita Soares, Ceu Mota
Summary: Alterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions, known as disorders of sex development (DSD), have a heterogeneous etiology. We present a case of a newborn with cri-du-chat syndrome and partial trisomy of chromosome 3, highlighting the importance of accurate diagnosis and prompt treatment.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Medicine, General & Internal
Mukta Agarwal, Shivangni Sinha, Sarsij Sharma, Smita Singh, Siddhant Roy
Summary: Ambiguous genitalia is a concern that requires thorough evaluation and treatment. In patients with partial androgen insensitivity, gonadectomy is a potentially lifesaving procedure due to the increased risk of malignancy if left undiagnosed.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Editorial Material
Medicine, General & Internal
A. E. Ahmed, M. H. Hassan
Summary: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by the deficiency of enzymes required for cortisol synthesis in the adrenal cortex. The most common type is steroid 21-hydroxylase deficiency, which can present with diverse symptoms including salt wasting and non-classical forms. This case report describes a two-month-old female infant with clinical and laboratory findings consistent with the classic salt-wasting type of 21-hydroxylase deficiency. The patient displayed ambiguous genitalia and salt wasting, but had a normal karyotype. Elevated levels of serum hormones and electrolyte abnormalities were also observed. The authors stress the importance of considering CAH in the differential diagnosis of newborn females with ambiguous genitalia and normal karyotyping, and suggest the inclusion of dried blood spot 17-hydroxyprogesterone assay in the newborn screening program in Egypt.
WEST INDIAN MEDICAL JOURNAL
(2023)
Review
Endocrinology & Metabolism
Karl-Heinz Storbeck, Michael W. O'Reilly
Summary: For a long time, it was believed that testosterone and 5 alpha-dihydrotestosterone were the only potent androgens in human physiology. However, the recent discovery of adrenal derived 11-oxygenated androgens, particularly 11-ketotestosterone, has challenged this belief and prompted a reevaluation of androgen pool, especially in women. These 11-oxygenated androgens have been implicated in various diseases, such as castration resistant prostate cancer, congenital adrenal hyperplasia, polycystic ovary syndrome, Cushing's syndrome, and premature adrenarche, leading to a focus on understanding their role in human health and disease.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Cell Biology
Antoine-Guy Lopez, Celine Duparc, Julien Wils, Alexandre Naccache, Mireille Castanet, Herve Lefebvre, Estelle Louiset
Summary: The human adrenal cortex is a complex organ consisting of different cell types that communicate through the release of bioactive signals, regulating adrenal cortical cell functions in both physiological and pathological conditions. Recent evidence suggests that the microenvironment of adrenal cortical cells is involved in the pathogenesis of adrenal disorders related to corticosteroid excess, making the paracrine factors in these intraadrenal regulatory mechanisms potential targets for future pharmacological treatments of adrenal diseases.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
Qaisar Ali Khan, Faiza Amatul-Hadi, Amritpal Kooner, Amber Lee, Rahma Ahmed, Adithya Nadella, Harshawardhan Pande, Yaxel Levin-Carrion, Muhammad Afzal, Moses Alfaro
Summary: Jacob's syndrome and congenital adrenal hyperplasia are separate diseases with similar clinical features, including ambiguous genitalia. Further research is needed to determine the relationship between Jacob's syndrome and congenital adrenal hyperplasia.
CLINICAL CASE REPORTS
(2023)