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"Congenital Adrenal Hypoplasia"

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https://www.readbyqxmd.com/read/27376611/x-linked-congenital-adrenal-hypoplasia-with-a-novel-nr0b1-dax-gene-mutation
#1
Mary B Abraham, Vinutha B Shetty, Fiona McKenzie, Jacqueline Curran
BACKGROUND: The etiology of primary adrenal insufficiency has implications for further management of the condition. CASE CHARACTERISTICS: A 5-year-old boy presented in adrenal crisis with glucocorticoid and mineralocorticoid deficiency. OBSERVATION: Investigations confirmed primary adrenal insufficiency and ruled out the common etiologies. Genetic testing identified a novel NR0B1/DAX gene mutation. MESSAGE: A genetic diagnosis in children with primary adrenal insufficiency is useful to provide genetic counselling...
June 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/25541901/is-hyperpigmentation-on-the-first-day-of-life-always-associated-with-image-syndrome
#2
Elif Özsu, Rahime Gül Yeşiltepe Mutlu, Olcay Işık, Filiz Mine Çizmecioğlu, Şükrü Hatun
IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity.
December 2014: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/25402384/a-novel-mutation-in-the-nr0b1-gene-in-a-family-with-monozygotic-twin-sisters-and-congenital-adrenal-hypoplasia-affected-children
#3
Roberta Minari, Alessandra Vottero, Francesco Tassi, Isabella Viani, Tauro Maria Neri, Maria Elisabeth Street, Lucia Ghizzoni, Sergio Bernasconi, Davide Martorana
OBJECTIVE: Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenesis. It is estimated that more than 50% of boys with idiopathic adrenal insufficiency have mutations in the NR0B1 gene product, DAX1. CASE REPORT: The proband is a young boy born after an uneventful pregnancy and delivery to non-consanguineous parents...
January 2015: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/25258553/beckwith-wiedemann-and-image-syndromes-two-very-different-diseases-caused-by-mutations-on-the-same-gene
#4
REVIEW
Donatella Milani, Lidia Pezzani, Silvia Tabano, Monica Miozzo
Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin allele-specific expression. Beckwith-Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them loss-of-function CDKN1C mutations. Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies). BWS and IMAGe share an imprinted mode of inheritance; familial analysis demonstrated the presence of the phenotype exclusively when the mutant CDKN1C allele is inherited from the mother...
2014: Application of Clinical Genetics
https://www.readbyqxmd.com/read/25255746/embryological-and-molecular-development-of-the-adrenal-glands
#5
REVIEW
Ian L Ross, Graham J Louw
In this mini review, the embryological and functional development of the adrenal glands is presented from a molecular perspective. While acknowledging that this is a highly complex series of events, the processes are described in simple and broad strokes in a single text for the reader who is interested in this field but is not an active researcher. The origin of the adrenal glands is in the mesodermal ridge as early as the fourth week of gestation. Between the eighth and ninth weeks of gestation, the adrenal glands are encapsulated and this results in the presence of a distinct organ...
March 2015: Clinical Anatomy
https://www.readbyqxmd.com/read/25079468/a-novel-mutation-in-the-nr0b1-dax1-gene-in-a-large-family-with-two-boys-affected-by-congenital-adrenal-hypoplasia
#6
Aleksandra Rojek, Maciej Flader, Elzbieta Malecka, Marek Niedziela
OBJECTIVE: X-linked Adrenal Hypoplasia Congenita (AHC) is a rare disorder caused by mutations in NR0B1 (DAX1) gene. DESIGN: We present two boys (cousins) with AHC who came to our attention at the age of 10 days and 15 days, respectively, in a life-threatening state. Laboratory studies in their neonatal periods showed hyponatremia and hyperkalemia. Primary adrenal insufficiency was confirmed, with severely low serum cortisol levels and high plasma ACTH levels. Hydrocortisone therapy with additional saline and glucose infusions were started immediately...
July 2014: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/24751136/are-human-male-patients-with-dax1-nr0b1-mutations-infertile
#7
REVIEW
Célia Ravel, Capucine Hyon, Jean-Pierre Siffroi, Sophie Christin-Maitre
DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. DAX-1 mutations usually cause primary adrenal insufficiency or congenital adrenal hypoplasia in early childhood and hypogonadotropic hypogonadism (MIM # 300200). DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Cases of azoospermia have been reported, as well as unsuccessful gonadotropin treatments. The clinician should be informed that TESE-ICSI technique carries a potential hope to father non-affected children, as shown in this review...
May 2014: Annales D'endocrinologie
https://www.readbyqxmd.com/read/24617583/image-association-report-of-two-cases-in-siblings-with-adrenal-hypoplasia-and-review-of-the-literature
#8
REVIEW
Katherine Phillips, May R Arroyo, Lizette Vila Duckworth
We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile...
May 2014: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/24197767/a-de-novo-mutation-of-dax1-in-a-boy-with-congenital-adrenal-hypoplasia-without-hypogonadotropic-hypogonadism
#9
Chun Lin Wang, Zhu Wei Fen, Li Liang
We report the case of a 12-year-old boy with a de novo mutation in the DAX1 gene (for dosage-sensitive sex reversal, congenital adrenal hypoplasia critical region on the X chromosome, gene 1; also called NROB1). He was born at term, Addison's disease was diagnosed at 8 years with a salt-wasting syndrome, and then hydrocortisone substitution was taken; the child continued to develop normally. A reoccurrence of salt-wasting syndrome usually happened after an episode of an abrupt withdrawal of hydrocortisone substitution...
March 2014: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/23739620/complex-glycerol-kinase-deficiency-x-linked-contiguous-gene-syndrome-involving-congenital-adrenal-hypoplasia-glycerol-kinase-deficiency-muscular-duchenne-dystrophy-and-intellectual-disability-il1rapl-gene-deletion
#10
REVIEW
Beata Wikiera, Aleksandra Jakubiak, Janusz Zimowski, Anna Noczyńska, Robert Smigiel
Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. One of them is complex glycerol kinase deficiency. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy and intellectual disability. There are no definite dysmorphic features for this syndrome. The diagnosis is based on clinical and laboratory findings. Symptoms depend on the size of deletion and appear almost exclusively in the male gender...
2012: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/23378245/nr0b1-dax1-mutations-in-patients-affected-by-congenital-adrenal-hypoplasia-with-growth-hormone-deficiency-as-a-new-finding
#11
Aleksandra Rojek, Monika Obara-Moszynska, Elzbieta Malecka, Malgorzata Slomko-Jozwiak, Marek Niedziela
No abstract text is available yet for this article.
May 2013: Journal of Applied Genetics
https://www.readbyqxmd.com/read/23340985/management-of-a-child-with-vomiting
#12
Sunit C Singhi, Ravi Shah, Arun Bansal, M Jayashree
Vomiting is a protective reflex that results in forceful ejection of stomach contents up to and out of the mouth. It is a common complaint and may be the presenting symptom of several life-threatening conditions. It can be caused by a variety of organic and nonorganic disorders; gastrointestinal (GI) or outside of GI. Acute gastritis and gastroenteritis (AGE) are the leading cause of acute vomiting in children. Important life threatening causes in infancy include congenital intestinal obstruction, atresia, malrotation with volvulus, necrotizing enterocolitis, pyloric stenosis, intussusception, shaken baby syndrome, hydrocephalus, inborn errors of metabolism, congenital adrenal hypoplasia, obstructive uropathy, sepsis, meningitis and encephalitis, and severe gastroenteritis, and in older children appendicitis, intracranial mass lesion, diabetic ketoacidosis, Reye's syndrome, toxic ingestions, uremia, and meningitis...
April 2013: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/23272655/x-linked-congenital-adrenal-hypoplasia-associated-with-hypospadias-in-an-egyptian-baby-a-case-report
#13
Kotb Abbass Metwalley, Hekma Saad Farghaly
UNLABELLED: HASH(0x4164950) INTRODUCTION: X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births...
2012: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/23018754/genetic-analysis-of-nr0b1-in-congenital-adrenal-hypoplasia-patients-identification-of-a-rare-regulatory-variant-resulting-in-congenital-adrenal-hypoplasia-and-hypogonadal-hypogonadism-without-testicular-carcinoma-in-situ
#14
A P Walker, R C Fowkes, F Saleh, S-H Kim, P Wilkinson, V Cabrera-Sharp, P J Talmud, S E Humphries, L H J Looijenga, P M G Bouloux
There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation. We aimed to define the basis of AHC/HH in 4 pedigrees of different ethnic backgrounds. One patient was elected to have testicular biopsy which was examined for evidence of carcinoma in situ (CIS). NR0B1 mutation analysis was performed by sequence analysis. NR0B1 expression was investigated by RT-PCR...
2012: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/22456342/multiplex-ligation-dependent-probe-amplification-analysis-of-the-nr0b1-dax1-locus-enables-explanation-of-phenotypic-differences-in-patients-with-x-linked-congenital-adrenal-hypoplasia
#15
Michela Barbaro, Susanne Bens, Andrea Haake, Michael Peter, Jürgen Brämswig, Paul-Martin Holterhus, Juan Pedro Lopez-Siguero, Udo Menken, Monika Mix, Wolfgang G Sippell, Anna Wedell, Felix G Riepe
BACKGROUND/AIM: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadic hypogonadism. It is caused by deletions or point mutations of the NR0B1 gene, on Xp21. AHC can be associated with glycerol kinase deficiency, Duchenne muscular dystrophy and mental retardation (MR), as part of a contiguous gene deletion syndrome. A synthetic probe set for multiplex ligation-dependent probe amplification analysis was developed to confirm and characterize NR0B1 deletions in patients with AHC and to correlate their genotypes with their divergent phenotypes...
2012: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/22308874/a-neonate-with-contiguous-deletion-syndrome-in-xp21
#16
Unal Sevim, Demirel Fatma, Esen Ihsan, Ceylaner Gulay, Belder Nevin
INTRODUCTION: We report a case of a male infant with the association of pseudohypertriglyceridemia, hypoadrenalism (hyponatremia, hyperpotasemia, dehydration), high creatine phosphokinase level (possible Duchenne's muscular dystrophy, DMD) and diagnosed contiguous gene deletion syndrome in Xp21. CASE REPORT: A 1-month-old male term infant was referred due to no weight gain. The examination revealed dehydration (decreased skin turgor), scrotal hyperpigmentation and hypotonia...
2011: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/21274326/familial-glucocorticoid-deficiency-type-2-a-case-report
#17
Leyla Akın, Selim Kurtoğlu, Mustafa Kendirici, Mustafa Ali Akın
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from resistance to the action of adrenocorticotropic hormone (ACTH) on the adrenal cortex, which leads to isolated glucocorticoid deficiency with normal mineralocorticoid secretion. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Laboratory investigations reveal low cortisol and androgen levels with high ACTH associated with normal reninaldosterone axis...
2010: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/21270512/two-novel-dax1-gene-mutations-in-chinese-patients-with-x-linked-adrenal-hypoplasia-congenita-clinical-hormonal-and-genetic-analysis
#18
C M Wu, H B Zhang, Q Zhou, L Wan, J Jin, L Ni, Y J Pan, X Y Wu, L Y Ruan
Mutations in the DAX1 gene result in X-linked congenital adrenal hypoplasia (AHC). Affected boys usually present with primary adrenal failure in early infancy or childhood and hypogonadotropic hypogonadism (HH) at puberty. This paper describes the clinical, hormonal, radiological, and genetic characteristics of 2 Chinese patients with X-linked AHC. Primary adrenal insufficiency occurred in the 2 patients during their childhood and HH was recognized at puberty. Genomic DNA was extracted from their peripheral blood leukocytes and coding sequence abnormalities of the DAX1 gene were assessed by PCR and direct sequencing analysis...
September 2011: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/21227944/birth-after-tese-icsi-in-a-man-with-hypogonadotropic-hypogonadism-and-congenital-adrenal-hypoplasia-linked-to-a-dax-1-nr0b1-mutation
#19
C Frapsauce, C Ravel, M Legendre, M Sibony, J Mandelbaum, B Donadille, J C Achermann, J-P Siffroi, S Christin-Maitre
DAX1/NR0B1 mutations are responsible for X-linked congenital adrenal hypoplasia (AHC) associated with hypogonadotropic hypogonadism (HH). Few data are available concerning testicular function and fertility in men with DAX1 mutations. Azoospermia as well as failure of gonadotrophin treatment have been reported. We induced spermatogenesis in a patient who has a DAX1 mutation (c.1210C>T), leading to a stop codon in position 404 (p.Gln404X). His endocrine testing revealed a low testosterone level at 1.2 nmol/l (N: 12-40) with low FSH and LH levels at 2...
March 2011: Human Reproduction
https://www.readbyqxmd.com/read/21108398/image-syndrome-case-report-with-a-previously-unreported-feature-and-review-of-published-literature
#20
REVIEW
Meena Balasubramanian, Alan Sprigg, Diana S Johnson
IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis...
December 2010: American Journal of Medical Genetics. Part A
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