Cargando…

46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report

The enzyme 17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) catalyzes the biosynthesis of testosterone (T) from Δ4- androstenedione, and plays an important role in the final steps of androgen synthesis. 17β-HSD3 deficiency originates from mutations in the HSD17B gene, causing an autosomal recessi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Çiftci, Nurdan, Kayaş, Leman, Çamtosun, Emine, Akıncı, Ayşehan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176087/ https://www.ncbi.nlm.nih.gov/pubmed/33389920 http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0249

Ejemplares similares

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience
por: Çamtosun, Emine, et al.
Publicado: (2021)

Liraglutide Treatment in a Morbidly Obese Adolescent with a MC4R Gene Variant: Side Effects Reduce Success
por: Çamtosun, Emine, et al.
Publicado: (2023)

Type 1 Diabetes Incidence Trends in a Cohort of Turkish Children and Youth
por: Dündar, İsmail, et al.
Publicado: (2023)

Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism
por: Çiftci, Nurdan, et al.
Publicado: (2023)

TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review
por: Kayaş, Leman, et al.
Publicado: (2022)

Chronic Disease Management of Children Followed with Type 1 Diabetes Mellitus
por: Güven Baysal, Şenay, et al.
Publicado: (2023)

A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment
por: Çamtosun, Emine, et al.
Publicado: (2019)

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene
por: Alikaşifoğlu, Ayfer, et al.
Publicado: (2015)

Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign
por: Çamtosun, Emine, et al.
Publicado: (2017)

A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development
por: Cocchetti, Carlotta, et al.
Publicado: (2022)

Female with 46, XY karyotype
por: Jung, Eun Jung, et al.
Publicado: (2017)

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
por: Yu, Bingqing, et al.
Publicado: (2021)

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
por: Marsudi, Bagas A., et al.
Publicado: (2018)

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
por: dos Santos, Ana Paula, et al.
Publicado: (2013)

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis
por: Papi, Giampaolo, et al.
Publicado: (2018)

XPF-673C>T Polymorphism Effect on the Susceptibility to Esophageal Cancer in Chinese Population
por: Liu, Yingwen, et al.
Publicado: (2014)

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads
por: Nomura, Risa, et al.
Publicado: (2015)

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development
por: Igarashi, Maki, et al.
Publicado: (2020)

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
por: Rothacker, Karen M., et al.
Publicado: (2018)

Acne in Klinefelter Syndrome-46XY/47XXY Mosaicism?
por: Lakshmi, Chembolli, et al.
Publicado: (2015)

Mosaic Turner Syndrome Presenting with a 46,XY Karyotype
por: Rasouli, Melody, et al.
Publicado: (2019)

Behavioural Problems in Children with 46XY Disorders of Sex Development
por: M. Selveindran, Nalini, et al.
Publicado: (2017)

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
por: McElreavey, Ken, et al.
Publicado: (2019)

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature
por: Maheshwari, Madhur, et al.
Publicado: (2022)

SUN-709 MiR-200c Expression Profiles in Plasma of 46,XY DSD Patients of Unknown Etiology
por: Elias, Felipe Martins, et al.
Publicado: (2020)

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals
por: Domenice, Sorahia, et al.
Publicado: (2016)

THU185 Molecular Etiologic Spectrum Of Patients With 46,XY And 46,XX Disorders Of Sex Development
por: Kim, Ja Hye, et al.
Publicado: (2023)

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism
por: De Groote, Katya, et al.
Publicado: (2013)

A rare case report of 46XY mixed gonadal dysgenesis
por: Arora, Rakesh, et al.
Publicado: (2013)

46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
por: DU, XUE, et al.
Publicado: (2014)

Clinical, hormonal and radiological profile of 46XY disorders of sexual development
por: Vasundhera, Chauhan, et al.
Publicado: (2016)

46,XY ovotesticular disorders of sex development: A therapeutic challenge
por: Scarpa, Maria-Grazia, et al.
Publicado: (2017)

Gender identity and gender of rearing in 46 XY disorders of sexual development
por: Gangaher, Arushi, et al.
Publicado: (2016)

Abstract 82: Rare case of 46XY OVO testicular DSD
por: Naushad, Altaf Ali, et al.
Publicado: (2022)

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
por: Bertelloni, Silvano, et al.
Publicado: (2021)

Facial Diplegia as Initial Manifestation of Acute, Myelomonocytic Leukemia with Isolated Trisomy 47, XY,+11[14]/46, XY[6]
por: Finsterer, Josef, et al.
Publicado: (2017)

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C
por: Cicek, Dilek, et al.
Publicado: (2021)

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
por: Çamtosun, Emine, et al.
Publicado: (2015)

Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development
por: Igarashi, Maki, et al.
Publicado: (2013)

Sex rearing in individuals with 46,XY disorders of sex development prior to diagnosis
por: Marzuki, Nanis S, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_um82fhsskfanhsfabvkqamspl9