A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
BMC Medical Genomics, 2021 Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
Rosaria Nardello +5 more
doaj +1 more source
Development of Free Testosterone Chemiluminescence Detection Kit and Its Clinical Application
Journal of Analytical Methods in Chemistry, Volume 2026, Issue 1, 2026.Background Free testosterone (FT), the bioactive form comprising 1%–2% of total testosterone, directly enters cells. Unlike total testosterone, FT levels are less affected by sex hormone–binding globulin and better reflect biological activity. Accurate serum FT measurement is crucial for diagnosing conditions like male hypogonadism, PCOS, metabolic ...
Shuang Han +6 more
wiley +1 more source
The first Australian evidence‐based guidelines on male infertility
Medical Journal of Australia, Volume 223, Issue 11, Page 653-663, December 2025.Abstract Introduction Infertility affects about one in six couples and a male factor may contribute to 50% of cases. Until recently, no Australian‐based clinical guidelines for the management of male infertility had been published. A panel of experts was assembled to formulate the first Australian evidence‐based guidelines on male infertility.
Darren J Katz +6 more
wiley +1 more source
International Journal of Endocrinology, 2016 Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center.
Georgette Beatriz De Paula +21 more
doaj +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
Mixed Gonadal Dysgenesis in Triple Mosaicism with Non-Fluorescent Y Chromosome [PDF]
, 1974 A 16-month-old male infant with ambiguous genitalia is reported. Karyotype of the patient revealed a 45, X/46, Xyq-/47, Xyq-Yq-mosaicism in blood and 45, X/47, Xyq-Yq- in gonadal tissue.
Yokoyama, Hiroshi, Yanagisawa, Satoshi
core
Impact of Endocrine‐Disrupting Chemicals (EDCs) Used in the Food Industry on Endocrine Abnormalities
Food Safety and Health, Volume 3, Issue 4, Page 547-556, October 2025.This review was conducted to examine the relationship between hormone disruption and other endocrine abnormalities in the context of the constant consumption of genetically modified foods and overexposure to chemicals used directly and indirectly in the agrifood industry.
Perla D. Serrano‐López +3 more
wiley +1 more source
Mixed gonadal dysgenesis and gonadal tumor--growth of seminoma after 27 years of an exploratory laparotomy [PDF]
, 1989 A case of mixed gonadal dysgenesis with anaplastic seminoma is herein reported. A 38-years-old man was admitted to our hospital with the chief complaint of a painful mass, 19.0 cm in long diameter in his lower abdomen.
栗田, 孝 +4 more
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Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency [PDF]
, 2011 Ring Y chromosome is a very rare chromosomal aberration. The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient.
M Guc-Scekic +15 more
core +1 more source
SURGICAL MANAGEMENT OF MIXED GONADAL DYSGENESIS: A CASE REPORT
Urology Research and Practice, 2019 -
M.K. Atilla +5 more
doaj +2 more sources