Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort [PDF]
, 2016 BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic ...
Bergman, P. +20 more
core +1 more source
Unexplained Infertility: An Update
The Obstetrician &Gynaecologist, Volume 28, Issue 2, Page 100-108, April 2026.ABSTRACT Key Content Unexplained infertility accounts for up to 30% of cases of infertility. Potential causes for unexplained infertility have been proposed including reduced oocyte quality, poor endometrial receptivity, ovulatory PCOS, subclinical endometriosis and low semen quality.
Claudia Raperport +3 more
wiley +1 more source
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case [PDF]
, 2014 Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations.
Antona, V. +7 more
core +1 more source
Vaginal clear cell adenocarcinoma with associated Mullerian duct anomalies, renal agenesis and situs inversus: report of a case with no known in-utero exposure with diethyl stilboestrol [PDF]
, 2009 A 27 year old female presented with two months history of continuous vaginal bleeding. On evaluation, she was diagnosed as a case of vaginal clear cell adenocarcinoma (VCCA) along with associated Mullerian duct anomalies including didelphys uterus with ...
Ahsan, Aamir, Zeeshan-ud-din,
core +1 more source
Study of Recurrent Miscarriage. Is Hysterosalpingography Necessary? [PDF]
, 2013 Overview and Aims: The investigation of recurrent miscarriage includes the study of uterine morphology. 3D ultrasound allows the evaluation of the morphology (cavity and outer contour), reducing the need for invasive tests such as hystero ...
Aboim, L +4 more
core
Sequential use of letrozole and gonadotrophin in women with poor ovarian reserve: a randomized controlled trial [PDF]
, 2011 Sequential use of letrozole and human menopausal gonadotrophin (HMG) was compared with HMG only in poor ovarian responders undergoing IVF. Patients (n=53) with less than four oocytes retrieved in previous IVF cycles or less than five antral follicles ...
Chan, CCW +4 more
core +1 more source
São Paulo Medical JournalCrossed testicular ectopia (CTE) is a rare anomaly, characterized by migration of one testis towards the opposite inguinal canal. Presented here is a case of crossed ectopia of the right testis, treated by extraperitoneal transposition of the gonad and ...
Edward Esteves +4 more
doaj +1 more source
Prolapse and sexual function 8 years after neovagina according to Shears: a study of 43 cases with Mayer-von Rokitansky-Küster-Hauser syndrome [PDF]
, 2018 Introduction and hypothesis: To investigate sexual and anatomical outcome after Shears neovagina in patients with Mayer-von Rokitansky-Kuster-Hauser syndrome (MRKH).
Dreher, Ekkehard +4 more
core
Foxl2 gene and the development of the ovary : a story about goat, mouse, fish and woman [PDF]
, 2005 In this review, we describe recent results concerning the genetics of sex determination in mammals. Particularly, we developed the study of the FOXL2 gene and its implication in genetic anomalies in goats (PIS mutation) and humans (BPES).
Baron, Daniel +14 more
core +4 more sources
Hernia Uteri Inguinale in Infancy: A Sonographic Rarity
iRADIOLOGY, Volume 4, Issue 2, Page 180-181, April 2026.
Siddhi Chawla, Girish Prabhakar
wiley +1 more source