keyword
https://read.qxmd.com/read/35592512/inhibition-of-nr5a1-phosphorylation-alleviates-a-transcriptional-suppression-defect-caused-by-a-novel-nr0b1-mutation
#21
JOURNAL ARTICLE
Ichiro Abe, Tomoko Tanaka, Kenji Ohe, Hideyuki Fujii, Mai Nagata, Kentaro Ochi, Yuki Senda, Kaori Takeshita, Midori Koga, Tadachika Kudo, Munechika Enjoji, Toshihiko Yanase, Kunihisa Kobayashi
Context: Mutations in the NR0B1 gene, also well-known as the DAX1 gene, are known to cause congenital adrenal hypoplasia associated with hypogonadotropic hypogonadism. The abnormal NR0B1 protein fails to suppress the transcription of promoters of steroidogenic enzymes, which are also targets of NR5A1 protein, also well-known as Ad4BP/SF-1 protein. Since NR5A1 and NR0B1 have antagonistic effects on steroidogenesis, the loss of function due to NR0B1 mutations may be compensated by inducing loss of function of NR5A1 protein...
June 1, 2022: Journal of the Endocrine Society
https://read.qxmd.com/read/35495001/non-conventional-genetic-basis-of-congenital-adrenal-hypoplasia-in-south-asia
#22
Sudip Chatterjee, Anirban Majumder
Congenital adrenal hypoplasia or adrenal hypoplasia congenita (AHC) is a rare disorder ascribed to mutations in three genes, namely, the dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX-1/NROB1 gene), steroidogenic factor-1 gene (SF-1/NR5A1 gene), and Achalasia-Addisonianism-Alacrima syndrome gene (AAAS gene). Five cases of AHC of local South Asian origin are described here. Golden Helix VarSeq 2.2.0 (Golden Helix Inc., Bozeman, MT, United States), the clinical genomics interpretation and reporting platform, was used for genetic study...
March 2022: Curēus
https://read.qxmd.com/read/35432221/effect-of-recombinant-gonadotropin-on-testicular-function-and-testicular-sperm-extraction-in-five-cases-of-nr0b1-dax1-pathogenic-variants
#23
JOURNAL ARTICLE
Jordan Teoli, Vincent Mezzarobba, Lucie Renault, Delphine Mallet, Hervé Lejeune, Pierre Chatelain, Frédérique Tixier, Marc Nicolino, Noël Peretti, Sandrine Giscard D'estaing, Béatrice Cuzin, Frédérique Dijoud, Florence Roucher-Boulez, Ingrid Plotton
Background: NR0B1 pathogenic variants can cause congenital adrenal hypoplasia or primary adrenal insufficiency in early childhood usually associated with hypogonadotropic hypogonadism. NR0B1 is necessary for organogenesis of the adrenal cortex and to maintain normal spermatogenesis. In humans, restoration of fertility in patients carrying NR0B1 pathogenic variants is challenging. Objective: The aim of the study was to investigate the clinical, hormonal, histological, spermiological, and molecular genetic characteristics of a cohort of patients with NR0B1 pathogenic variants, monitored for fertility preservation...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/34938333/an-iranian-congenital-adrenal-hypoplasia-patient-with-elevated-testosterone-in-infancy-due-to-a-novel-pathogenic-frameshift-variant-in-nr0b1
#24
JOURNAL ARTICLE
Samira Kalayinia, Saeed Talebi, Mohammad Miryounesi, Peymaneh Sarkhail, Nejat Mahdieh
X-linked congenital adrenal hypoplasia due to NR0B1 mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in NR0B1 associated with congenital adrenal hypoplasia by whole exome sequencing in an Iranian case with high level of testosterone. Clinical evaluations and pedigree drawing were performed. Point mutations, gene conversions, and large deletions of the CYP21A2 gene were checked. WES and segregation analyses were conducted...
2021: International Journal of Endocrinology
https://read.qxmd.com/read/34743506/complex-glycerol-kinase-deficiency-long-term-follow-up-of-two-patients
#25
Beata Wikiera, Aleksandra Jakubiak, Izabela Łaczmanska, Anna Noczyńska, Robert Śmigiel
Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21. Patients with CGKD present with features characteristic for adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy and sometimes intellectual disability. We present a long-term follow-up of two unrelated boys with molecular diagnosis of complex glycerol kinase deficiency. Genetic examinations in both patients revealed a deletion on Xp21 chromosome including complete deletion of NR0B1 and GK genes...
2021: Pediatric Endocrinology, Diabetes, and Metabolism
https://read.qxmd.com/read/34690268/lacrimal-gland-hypoplasia-and-corneal-anesthesia-in-mirage-syndrome-a-case-report-and-literature-review
#26
JOURNAL ARTICLE
Amy Basilious, Alfred Basilious, Ramy ElJalbout, Marie-Claude Robert
PURPOSE: The purpose of this report was to describe the ocular findings in Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (MIRAGE) syndrome, a multisystem congenital disorder. METHODS: This was a case report and literature review. RESULTS: An infant with MIRAGE syndrome (combined immunodeficiency with recurrent infections, growth restriction, adrenal insufficiency, 46,XY karyotype with hypovirilization, dysphagia, gastroesophageal reflux disease, and dysautonomia) underwent ophthalmological evaluation because of persistent conjunctivitis during his 8-month admission in the neonatal intensive care unit...
October 23, 2021: Cornea
https://read.qxmd.com/read/34689766/a-rare-co-occurrence-of-duchenne-muscular-dystrophy-congenital-adrenal-hypoplasia-and-glycerol-kinase-deficiency-due-to-xp21-contiguous-gene-deletion-syndrome-case-report
#27
JOURNAL ARTICLE
Asanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Oshanie Muthukumarana, Eresha Jasinge, Sachith Mettananda
BACKGROUND: Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involving Xp21 genomic location. CASE PRESENTATION: A Sri Lankan boy with developmental delay and failure to thrive first presented at three years of age with hypovolaemia, hyperpigmentation and drowsiness. Investigations done at that time revealed hypoglycaemia, hyponatraemia, hyperkalaemia, low cortisol, low aldosterone, high ACTH and low 17-hydroxyprogesterone...
October 24, 2021: BMC Endocrine Disorders
https://read.qxmd.com/read/34665352/duplication-of-exons-15-and-16-in-matrin-3-a-phenotype-bridging-amyotrophic-lateral-sclerosis-and-immune-mediated-disorders
#28
JOURNAL ARTICLE
Maria Caputo, Elisabetta Zucchi, Ilaria Martinelli, Giulia Gianferrari, Cecilia Simonini, Amedeo Amedei, Elena Niccolai, Cinzia Gellera, Viviana Pensato, Jessica Mandrioli
Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. While most of MATR3 mutations are point mutations, here we report the first case of ALS associated with duplication in exons 15 and 16. The patient presented with limb-onset ALS and a complex past medical history because of Sjögren syndrome, antiphospholipid antibodies positivity, polyallergies, endometriosis, aldosterone-secreting adrenal cortical adenoma, congenital vesicoureteral reflux, and right breast hypoplasia...
February 2022: Neurological Sciences
https://read.qxmd.com/read/34622726/fetal-mediastinal-fibrosarcoma-report-of-two-cases
#29
JOURNAL ARTICLE
Murat Cagan, Selma Yildirim, Gulenay Gencosmanoglu Turkmen, Ozgur Ozyuncu, Zuhal Akcoren, Ozgur Deren, Safak Gucer
One-third of fetal soft tissue tumors are malignant and include congenital fibrosarcoma (CF). We report two fetal CFs arising in the posterior mediastinum. Case Presentation: In case 1, the CF resulted in a mediastinal shift, extensive infiltration of the tumor around adjacent structures, pulmonary hypoplasia, pleural effusion, and rapid growth. The pregnancy was terminated. Case 2 had multiple intrathoracic masses, thoracic hypoplasia, pleural effusion, and fetal death. Both were diagnosed as fibrosarcoma at fetopsy...
October 8, 2021: Fetal and Pediatric Pathology
https://read.qxmd.com/read/34243750/aldosterone-signaling-defect-in-young-infants-single-center-report-and-review
#30
JOURNAL ARTICLE
Melati Wijaya, Huamei Ma, Jun Zhang, Minlian Du, Yanhong Li, Qiuli Chen, Song Guo
BACKGROUND: Aldosterone (Ald) is a crucial factor in maintaining electrolyte and water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) manifestation. This disease group is rare, while most reported cases are sporadic. This study aimed to obtain an overview of the etiology and clinical picture of patients with the above condition and report our rare cases. METHODS: A combination of retrospective review and case studies was conducted at the Pediatric Endocrine unit of The First Affiliated Hospital Sun Yat Sen University from September 1989 to June 2020...
July 9, 2021: BMC Endocrine Disorders
https://read.qxmd.com/read/34130666/x-linked-congenital-adrenal-hypoplasia-a-case-presentation
#31
JOURNAL ARTICLE
Hong Ouyang, Bo Chen, Na Wu, Ling Li, Runyu Du, Meichen Qian, Wenshu Yu, Yujing He, Xinyan Liu
BACKGROUND: Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison's disease or congenital adrenal hyperplasia (CAH). There was also a significant time difference between the age at which patients developed symptoms and the age at which they were diagnosed with AHC. Most patients showed early symptoms during infantile and juvenile periods, but were diagnosed with AHC many years later...
June 15, 2021: BMC Endocrine Disorders
https://read.qxmd.com/read/34098225/a-case-report-co-occurrence-of-image-syndrome-and-rhabdomyosarcoma
#32
JOURNAL ARTICLE
Maria Bolomiti, Erik Båtnes-Pedersen, Gabriela Telman, Danuta Januszkiewicz-Lewandowska
IMAGe syndrome is a rare congenital disorder, presenting with intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (in males). So far only 17 individuals have been diagnosed molecularly with IMAGe syndrome, this patient is the first case of an individual diagnosed with IMAGe and concurrent rhabdomyosarcoma. The patient was born at 30 weeks' gestation and received treatment for hyponatremia and hyperkalemia. At 4 9/12 years of age the patient showed a painless, non-mobile mass on the left thigh...
August 2021: Cancer Genetics
https://read.qxmd.com/read/33983398/clinical-and-biochemical-features-of-hypopituitarism-among-brazilian-children-with-zika-virus-induced-microcephaly
#33
JOURNAL ARTICLE
Leda L Ferreira, Juan P Aguilar Ticona, Paulo S Silveira-Mattos, María B Arriaga, Thaisa B Moscato, Gildásio C Conceição, Antonio Carlos Dos Santos, Federico Costa, Crésio A D Alves, Sonir R Antonini
Importance: The Zika virus infects progenitor neuron cells, disrupts cerebral development, and, in mice, drives hypothalamic defects. Patients with microcephaly caused by congenital Zika infection present with midline cerebral defects, which may result in hypopituitarism. Objective: To analyze postnatal growth and the presence of clinical and biochemical features associated with hypopituitarism in children with congenital Zika infections. Design, Setting, and Participants: In this prospective cohort study at 2 public referral hospitals in Bahia, Brazil, specializing in the treatment of congenital Zika infection, clinical data and growth parameters of 65 patients with the infection were evaluated...
May 3, 2021: JAMA Network Open
https://read.qxmd.com/read/33766795/a-novel-stop-loss-dax1-variant-affecting-its-protein-interaction-with-sf1-precedes-the-adrenal-hypoplasia-congenital-with-rare-spontaneous-precocious-puberty-and-elevated-hypothalamic-pituitary-gonadal-adrenal-axis-responses
#34
JOURNAL ARTICLE
Haihua Yang, Haiyan Wei, Linghua Shen, Selvaa Kumar C, Qiong Chen, Yongxing Chen, Senthil Arun Kumar
The case study unveils the likely mechanism of a novel stop-loss DAX1 variant preceding the prolonged precocious puberty in the adrenal hypoplasia congenital (AHC) boy. A boy aged five years and nine months initially examined for the primary adrenal insufficiency symptoms. Next-generation sequencing confirmed the X-linked inheritance of a novel stop-loss DAX1 variant: c.1411T>C/p.Ter471Gln associated with AHC in the patient. The patient was subjected to a brief clinical follow-up from 11 to 15.1 years of age...
May 2021: European Journal of Medical Genetics
https://read.qxmd.com/read/33607267/adrenal-cortex-development-and-related-disorders-leading-to-adrenal-insufficiency
#35
REVIEW
Emanuele Pignatti, Christa E Flück
The adult human adrenal cortex produces steroid hormones that are crucial for life, supporting immune response, glucose homeostasis, salt balance and sexual maturation. It consists of three histologically distinct and functionally specialized zones. The fetal adrenal forms from mesodermal material and produces predominantly adrenal C19 steroids from its fetal zone, which involutes after birth. Transition to the adult cortex occurs immediately after birth for the formation of the zona glomerulosa and fasciculata for aldosterone and cortisol production and continues through infancy until the zona reticularis for adrenal androgen production is formed with adrenarche...
May 1, 2021: Molecular and Cellular Endocrinology
https://read.qxmd.com/read/33544418/acute-illness-in-children-with-secondary-adrenal-insufficiency
#36
JOURNAL ARTICLE
Rosemary Louise Rushworth, Nikki Gouvoussis, Thomas Goubar, Ann Maguire, Craig F Munns, Kristen A Neville, David J Torpy
OBJECTIVE AND BACKGROUND: Secondary adrenal insufficiency (SAI) is a rare condition in childhood which can be associated with high levels of morbidity in some patients. The causes of increased levels of illness are not well defined and warrant further investigation. METHODS: A retrospective cohort of patients with SAI was constructed by examining records of all attendances for acute illness by SAI patients at the emergency department of the two specialist paediatric hospitals in Sydney, Australia between 2004 and 2016...
June 2021: Clinical Endocrinology
https://read.qxmd.com/read/33247909/primary-adrenal-insufficiency-in-childhood-data-from-a-large-nationwide-cohort
#37
MULTICENTER STUDY
Donatella Capalbo, Cristina Moracas, Marco Cappa, Antonio Balsamo, Mohamad Maghnie, Malgorzata Gabriela Wasniewska, Nella Augusta Greggio, Federico Baronio, Carla Bizzarri, Giusy Ferro, Alessandra Di Lascio, Marianna Rita Stancampiano, Sara Azzolini, Giuseppa Patti, Silvia Longhi, Mariella Valenzise, Giorgio Radetti, Corrado Betterle, Gianni Russo, Mariacarolina Salerno
CONTEXT: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. OBJECTIVE: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI. PATIENTS AND METHODS: Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected. RESULTS: The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3...
March 8, 2021: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/32938577/pediatric-primary-adrenal-insufficiency-a-21-year-single-center-experience
#38
JOURNAL ARTICLE
Emine Çamtosun, İsmail Dündar, Ayşehan Akıncı, Leman Kayaş, Nurdan Çiftci
OBJECTIVE: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified. METHODS: Patients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail...
February 26, 2021: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/32903448/primary-adrenocortical-insufficiency-case-series-in-the-neonatal-period-genetic-etiologies-are-more-common-than-expected
#39
JOURNAL ARTICLE
Jinzhi Gao, Ling Chen
Primary adrenocortical insufficiency (PAI) is an important cause of morbidity in neonates. The most common cause of PAI in neonates is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). Other rarer monogenic cases, for example, adrenal hypoplasia congenita (AHC) or familial glucocorticoid deficiency, also simulate clinical manifestation of 21-OHD, leading to misdiagnosis. The therapies and prognosis of these monogenic cases of PAI are entirely different. This study aimed to compare the differences of clinical data and identify genetic etiologies of PAI cases in the neonatal period...
2020: Frontiers in Pediatrics
https://read.qxmd.com/read/32845106/complex-glycerol-kinase-deficiency-xp21-deletion-syndrome-a-case-report-of-a-contiguous-gene-disorder-necessitating-creative-anesthetic-planning
#40
JOURNAL ARTICLE
Baptiste Rossell, Juliette Godart, Caroline Petyt, Francis Veyckemans
We report a case of Xp21 deletion syndrome, a contiguous gene syndrome associating glycerol kinase deficiency, Duchenne muscular dystrophy, and congenital adrenal hypoplasia. This results in a contraindication to the use of all halogenated agents and of propofol. We used regional anesthesia combined with dexmedetomidine and ketamine. Previously, the patient had received inadvertently a propofol-based total intravenous anesthesia (TIVA) with no clinical side effects. We were unfortunately unable to document the metabolic consequences of this glycerol load...
August 2020: A&A Practice
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