Disorders of sex development: challenges for the future [PDF]
, 2012 No abstract ...
Ahmed +14 more
core +1 more source
Germ cell and other tumors in individuals with differences in sex development
CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel +1 more
wiley +1 more source
Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report
Obstetrics and Gynecology International, 2010 Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report.
N. Bousfiha +5 more
doaj +1 more source
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome
Journal of Human Reproductive Sciences, 2016 46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH)
Sriharibabu Manne +5 more
doaj +1 more source
O uso da hibridação in situ com fluorescência no diagnóstico de mosaicismo oculto: a propósito de três casos de anomalias de cromossomos sexuais [PDF]
, 2012 FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old
Andrade, Juliana Gabriel Ribeiro +7 more
core +3 more sources
International Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 528-537, November 2025.Abstract Pediatric and adolescent gynecology (PAG) is an expanding subspecialty of obstetrics and gynecology that addresses the reproductive health needs of girls and young women worldwide. In regions with limited subspecialist healthcare providers, general obstetricians, gynecologists, and nurse‐midwives, frontline healthcare providers provide ...
Nichole A. Tyson +6 more
wiley +1 more source
Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
Iranian Journal of Medical Sciences, 2017 Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner ...
Zahra Razavi, Hossein Emad Momtaz
doaj
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome [PDF]
, 2016 Background: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated.
Chong, C.E. +5 more
core +2 more sources
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Chinese female with 45,X/46,XX mosaicism and der(X) (Xqter → Xq13?::Xp11.4 → Xqter). SHOX deletion (41.25 Mb) and PLP1 duplication (111.4 Mb) linked to growth/neuro risks. Integrated karyotyping, MLPA, microarray, and STR analysis revealed cryptic X‐chromosome rearrangements, guiding precise breakpoint mapping.
Weijun Jiang +4 more
wiley +1 more source
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report [PDF]
, 2022 Lidiia Zhytnik +13 more
openalex +1 more source