Results 11 to 20 of about 1,925,913 (166)

Psychosocial considerations in the management of late-diagnosed male pseudohermaphroditism

open access: yesThe Turkish Journal of Pediatrics, 1994
Male pseudohermaphroditism (MPH), which causes ambiguous genitalia, rarely presents during adolescence. Herein we report two siblings diagnosed with MPH at the ages of 16 and 12 years and raised unambiguously as girls. Individuals with MPH provide
T Alkin, A Büyükgebiz, A Baykara
doaj   +4 more sources

Male pseudohermaphroditism presented with sudden cardiac arrest. [PDF]

open access: yesYonsei Med J, 2012
Torsades de pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. We report a case of male pseudohermaphroditism with hyperaldosteronism due to a 17α-hydroxylase deficiency presented
Shim J   +4 more
europepmc   +2 more sources

Late Histopathological Features of Testis Tissue in a Patient With Male Pseudohermaphroditism Due to Leydig Cell Aplasia

open access: yesEndocrinology Research and Practice, 2006
Leydig cell aplasia is a rare form of male pseudohermaphroditism. We determined Leydig cell aplasia in a 39 yr old patient, grown up as a female, with female external genitalia and primary amenorrhea.
Selen Bahçeci   +4 more
doaj   +3 more sources

Nosology of genetic skeletal disorders: 2023 revision

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger   +20 more
wiley   +1 more source

Persistent Mullerian Duct Syndrome with Embryonal Cell Carcinoma along with Ectopic Cross Fused Kidney [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2016
Persistent Mullerian Duct Syndrome (PMDS) is a form of internal male pseudohermaphroditism, where there is normal development of male secondary sexual characters, along with the presence of bilateral fallopian tubes and uterus.
ARUN KUMAR BARAD   +4 more
doaj   +1 more source

Population structure and morphology of Canarium (Canarium) incisum and Canarium (Canarium) esculentum (Mollusca: Neostromboidae: Strombidae) from the Philippines with preliminary notes on aperture colouration based on DArTseq data

open access: yesActa Zoologica, Volume 104, Issue 2, Page 255-261, April 2023., 2023
Abstract Canarium (Canarium) incisum and Canarium (Canarium) esculentum are small members of the molluscan Strombidae family. Little is known of their population structure. Therefore, we explored this using samples from a population of each. The first sample from Corong Corong Beach, El Nido, Philippines, consisted of 81 adult C.
Stephen J. Maxwell   +2 more
wiley   +1 more source

Suspected severe post‐anaesthetic myopathy or myelopathy in a Clydesdale horse resulting in euthanasia

open access: yesVeterinary Record Case Reports, Volume 10, Issue 3, September 2022., 2022
Abstract This case report describes suspected myopathy or myelopathy in a 5‐year‐old Clydesdale gelding following general anaesthesia for sarcoid removal. The lowest mean arterial pressure was 67 mmHg. Hyperlactataemia and tachycardia were observed during anaesthesia prompting abortion of surgery.
Ffion Lloyd   +4 more
wiley   +1 more source

Male pseudohermaphroditism in dogs: three case reports

open access: yesVeterinární Medicína, 2007
Three Cocker Spaniel dogs, 2-3 months old, weighing 3-4 kg, were presented to the Chonbuk Animal Medical Centre, Chonbuk National University, with intersex anomalies.
M.R. Alam   +7 more
doaj   +1 more source

Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study

open access: yesMolecular Genetics &Genomic Medicine, Volume 10, Issue 8, August 2022., 2022
We believe that there has been very few functional experimental analysis of AMHR2 or AMH variants that caused PMDS. Our results showed that the p.Gly40Arg variant of AMHR2 had a reduced ability to bind to AMH, while p.Ala408Pro variant undermines the function of the kinase domain, both of which synergistically diminish AMH/AMHR2 signaling. Our findings
Hong Chen   +3 more
wiley   +1 more source

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

open access: yes, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Blethen, Sandra L.   +14 more
core   +1 more source

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