Results 41 to 50 of about 591 (138)

Ovotesticular Disorder of Sex Development with Normal Karyotype: A Rare Case Report

Saudi Journal of Pathology and Microbiology, 2022
Ovotesticular disorder of sex development (DSD) refers to the co-presence of testicular and ovarian tissue in one individual. Here we report a case of Ovotesticular Disorder of Sex Development in a 42 years old male, presented with abdominal mass and undescended testes who had a normal karyotype.
Reddy Purushotham, Vernekar Sunita, Choukimath S. M, Bhavikatti Bharati, Dr. Abhisha RS   +4 more
openaire   +1 more source

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

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, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior   +21 more
doaj   +1 more source

“Spectrum of 46 XY disorders of sex development”: A Hospital-based Cross-sectional Study

Indian Journal of Endocrinology and Metabolism, 2020
Background: Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating ...
Samiran Das, Uma K Saikia, Kandarpa K Saikia, Dipti Sarma, Bipul K Choudhury, Ashok K Bhuyan, Abhamoni Baro, Darvin V Das, Sonali Appaiah   +8 more
doaj   +1 more source

Disorders of sex development: a study of 194 cases

Endocrine Connections, 2018
Objective: To study the clinical profile and the management of patients with disorders of sex development (DSD). Design and setting: Retrospective study from a tertiary care hospital of North India.
R Walia, M Singla, K Vaiphei, S Kumar, A Bhansali   +4 more
doaj   +1 more source

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma

Medicine, 2020
Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon.We report a case of a 36-year-old phenotypical male with a chief complaint of an ...
Li, Zixiang, Liu, Junjie, Peng, Yunpeng, Chen, Renfu, Ge, Peng, Wang, Junqi   +5 more
openaire   +2 more sources

Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes

Yearbook of Paediatric Endocrinology, 2020
AbstractIn mice, male sex determination depends on FGF9 signalling via FGFR2c in the bipotential gonads to maintain the expression of the key testis gene SOX9. In humans, however, while FGFR2 mutations have been linked to 46,XY disorders of sex development (DSD), the role of FGF9 is unresolved.
Bird, Anthony D., Croft, Brittany M., Harada, Masayo, Tang, Lingyun, Zhao, Liang, Ming, Zhenhua, Bagheri-Fam, Stefan, Koopman, Peter, Wang, Zhugang, Akita, Keiichi, Harley, Vincent R.   +10 more
openaire   +5 more sources

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal, Tathagata Jha, Mohammad Orooj Azmi, Soumita Sarkar, Vinay Suresh   +4 more
wiley   +1 more source

Genomic technologies and the diagnosis of 46, XY differences of sex development

Andrology, Volume 13, Issue 5, Page 1025-1043, July 2025.
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source

Clinical spectrum of disorders of sex development: A cross-sectional observational study

Indian Journal of Endocrinology and Metabolism, 2018
Objective: Disorders of sex development (DSD) constitutes a small but difficult and equally important area of endocrinology. It is often a social emergency as the decision regarding sex assignment in these cases is extremely disturbing and difficult to ...
Sheeraz A Dar, Mudasir Nazir, Roumissa Lone, Duri Sameen, Ikhlas Ahmad, Wasim A Wani, Bashir A Charoo   +6 more
doaj   +1 more source

Navigating the disclosure landscape: Parents' perspectives on healthcare professionals' role in supporting intersex children and families

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract Intersex, an umbrella term, describes individuals with sex characteristics that cannot be exclusively categorized into binary definitions of male or female. The intersex community faces a lack of social visibility perpetuated by a history of medical discrimination and pathologization shaped by “normalizing” genital surgeries without the child ...
Kayla Horowitz, Kimberly Zayhowski, Nicole Palmour, Darius Haghighat, Yann Joly   +4 more
wiley   +1 more source