Results 11 to 20 of about 5,397,667 (244)

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

JCRPE, 2020
Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens.
Samim Özen, Tahir Atik, Özlem Korkmaz, Hüseyin Onay, Damla Gökşen, Ferda Özkınay, Özgür Çoğulu, Şükran Darcan   +7 more
doaj   +1 more source

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

JCRPE, 2022
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.
Nurdan Çiftci, Leman Kayaş, Emine Çamtosun, Ayşehan Akıncı   +3 more
doaj   +1 more source

Fixed point results for generalized multivalued orthogonal α-F-contraction of integral type mappings in orthogonal metric spaces

Topological Algebra and its Applications, 2022
In the present article, we introduce a new type of generalized multivalued orthogonal α-Fcontraction of integral type mappings in the context of orthogonal metric spaces and establish some fixed point results.
Mewomo Oluwatosin Temitope, Leyew Bahru Tsegaye, Abbas Mujahid   +2 more
doaj   +1 more source

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

JCRPE, 2023
INTRODUCTION: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD)
Rjiba Khouloud, Wafa Slimani, Meriem Gaddas, Ikbel Hadj hassine, Afef Jelloul, Hela Ben Khelifa, Fethi El Amri, Monia Zaouali, Kenneth Mcelreavey, Ali Saad, Soumaya Mougou-Zerelli   +10 more
doaj   +1 more source

Case Report: Is It Premature Ovarian Insufficiency or Swyer Syndrome After Bone Marrow Transplantation?

Frontiers in Pediatrics, 2022
Introduction: Iatrogenic factor is one of the recognized causes for premature ovarian insufficiency. The aim of this case report was to present a rare case with premature ovarian insufficiency and 46, XY karyotype after bone marrow transplant (BMT) for ...
Hui Li, Jin Li, Xiaohong Li, Hong Yi, Qixiu Ren, Xiaoyan Chen, Xiaoyan Chen   +6 more
doaj   +1 more source

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

Frontiers in Pediatrics, 2021
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains
Silvano Bertelloni, Nina Tyutyusheva, Margherita Valiani, Franco D'Alberton, Fulvia Baldinotti, Maria Adelaide Caligo, Giampiero I. Baroncelli, Diego G. Peroni   +7 more
doaj   +1 more source

Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia

JCRPE, 2021
Objective:To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male.Methods:A national database was created. The data of patients were asked to be recorded in the data form.Results:The
Şenay Savaş-Erdeve, Zehra Aycan, Semra Çetinkaya, Ayşe Pınar Öztürk, Firdevs Baş, Şükran Poyrazoğlu, Feyza Darendeliler, Elif Özsu, Zeynep Şıklar, Meliha Demiral, Edip Unal, Mehmet Nuri Özbek, Fatih Gürbüz, Bilgin Yüksel, Olcay Evliyaoğlu, Nesibe Akyürek, Merih Berberoğlu   +16 more
doaj   +1 more source

Mayer‐Rokitansky‐Küster‐Hauser syndrome presented as recurrent urinary tract infection in childhood (case report)

Reproductive, Female and Child Health, 2023
Background Mayer‐Rokitansky‐Küster‐Hauser syndrome (MRKH) is characterized by the absence of the uterus and upper two‐thirds of the vagina, normal secondary sexual development, and 46XX karyotype is one of the rare types of Mullerian agenesis.
Nargess Falsafi, Hossein Amirzargar, Mastaneh Moghtaderi   +2 more
doaj   +1 more source

A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

JCRPE, 2019
Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen. Herein, we report a 46, XX patient born with virilised external genitalia.
Fatma Dursun, Serdar Ceylaner
doaj   +1 more source

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

Endocrine Connections, 2018
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well
Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, Marek Niedziela   +11 more
doaj   +1 more source