Results 61 to 70 of about 168,585,466 (202)

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

open access: yesReproductive Biology and Endocrinology, 2023
Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male ...
Khouloud Rjiba   +21 more
doaj   +1 more source

Genetic and Phenotypic Correlations Among Growth, Disease Occurrence, and Reproductive Performance From Calf to Heifer in Girolando Dairy Cattle

open access: yesJournal of Animal Breeding and Genetics, EarlyView.
ABSTRACT The Girolando breed, a cross between Holstein (Bos taurus) and Gir (Bos indicus), is the primary choice for dairy production in Brazilian tropical regions, as it combines high productive potential with adaptation to the tropical environment.
Laura B. da C. Pereira   +6 more
wiley   +1 more source

Service users’ experiences of obtaining and giving information about disorders of sex development

open access: yes, 2009
OBJECTIVE: To quantify participants' experiences of obtaining and giving information about disorders of sex development (DSD). DESIGN: Cross-sectional survey study that asked people about their current and past experiences relating to DSD disclosure ...
Conway, G.S.   +13 more
core   +1 more source

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism
Purpose 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.
Heeyon Yoon   +4 more
doaj   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

open access: yesAndrology, Volume 14, Issue 7, Page 1906-1928, October 2026.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede   +11 more
wiley   +1 more source

Disorders of Sex Development (DSD): networking and standardization considerations

open access: yes, 2015
Syndromes resulting in Disorders of Sex Development (DSD) are individually rare. Historically, this fact has hindered both clinical research and the delivery of evidence-based care.
Callens, Nina   +2 more
core   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

open access: yesInternational Forum of Allergy &Rhinology, Volume 16, Issue 9, Page 924-930, September 2026.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh   +34 more
wiley   +1 more source

Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature

open access: yesBMC Women's Health, 2023
Introduction : Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male and female structures.
Koui Bbs   +6 more
doaj   +1 more source

Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report

open access: yesAtti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2021
NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility.
Antonella Gambadauro   +5 more
doaj   +1 more source

Disorders of sex development: developmental challenges and mothers' experiences of support [PDF]

open access: yes, 2014
An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met.
Chivers, C.
core  

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