Results 141 to 150 of about 21,834 (238)

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN ...
Rafael Fabiano Machado Rosa, Willy Francisco Bartel D'Ecclesiis, Raquel Papandreus Dibbi, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Carla Graziadio, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen   +7 more
doaj   +1 more source

MYRF mutation leads to a single manifestation of sexual development and mimics partial androgen insensitivity syndrome: a case report and literature review

Gynecological Endocrinology
Objective To highlight the challenges in diagnosing 46, XY disorder of sex development related to MYRF mutation.Methods We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen ...
Duoduo Zhang, Qinjie Tian
doaj   +1 more source

46,XY ovotesticular disorder of sex development [PDF]

, 2020
openaire   +1 more source

220 46,XY disorder of sex development – partial gonadal dysgenesis – case report [PDF]

Abstracts, 2021
Matea Melša, Miram Pasini, Nevena Krnić, Marija Mikloš, Kristina Crkvenac Gornik, Ivana Sabolić, Katja Dumić Kubat   +6 more
openaire   +1 more source

Clinical characteristics of 46,XY disorder of sex development(46,XY DSD) caused by NR5A1 gene mutation [PDF]

Journal of Pediatric Urology, 2020
openaire   +1 more source

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2016
The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclusive. Here, we describe an adolescent female with hirsutism and hyperandrogenization at puberty.
Werner, Ralf, August, Julia M., Freiberg, Clemens, Reiz, Benedikt, Holterhus, Paul-Martin, Kulle, Alexandra, Wudy, Stefan A., Richter-Unruh, Annette, Thorns, Christoph, Hiort, Olaf, Mönig, Isabel, Lünstedt, Ralf, Wünsch, Lutz, Döhnert, Ulla   +13 more
openaire   +2 more sources

Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

The Ceylon medical journal, 2016
There are several conditions giving rise to 46, XY disorders of sex development (DSD) with different modes of inheritance. Therefore definitive diagnosis based on molecular genetic confirmation would be the ideal to counsel parents regarding the future implications of the condition affecting their baby.
K S H, de Silva, N D, Sirisena, H K, Wijenayaka, J G, Cooray, R W, Jayasekara, V H W, Dissanayake   +5 more
openaire   +1 more source

Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review. [PDF]

Medicine (Baltimore)
Zhang Y, Yue F, Qi T, Liu R.
europepmc   +1 more source

Familial <i>WT1</i>-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. [PDF]

World J Nephrol
Khandelwal MH, Piparva KG, Parchwani D.
europepmc   +1 more source

Complete androgen insensitivity syndrome presenting with bilateral adnexal masses and mixed gonadal histopathology. [PDF]

Arch Gynecol Obstet
Yildiz AG, Kurt A, Cengiz ID, Arslankoz S, Gultekin IB.   +4 more
europepmc   +1 more source