Results 11 to 20 of about 8,597 (215)

Persistent Mullerian duct syndrome (PMDS): Case report and review of literature

Urology Case Reports, 2022
Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism (MPH) which characterized by the presence of uterus, fallopian tubes and upper part of vagina in an otherwise normally differentiated 46, XY male.
Abdullah B. Alanazi, Afrah Aldhowayan, Mousa M. Almuhanna, Abdullah M. Alghamdi   +3 more
doaj   +1 more source

Nosology of genetic skeletal disorders: 2023 revision

American 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, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

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

Journal 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, NR MANJU BHARATH, V NARAYANA, V OM PRAMOD KUMAR RAJA, PRANAV REDDY JAMBULA   +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

Acta 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, Stephanie J. Todd, Tasmin L. Rymer   +2 more
wiley   +1 more source

Male pseudohermaphroditism in dogs: three case reports

Veterinární 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, Y.G. Cho, S.J. Cho, J.I. Lee, H.B. Lee, H.J. Tae, I.S. Kim, N.S. Kim   +7 more
doaj   +1 more source

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

, 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.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source

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

Veterinary 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, Claire Dixon, Josephine Kropf, Nicholas Bellitto, Pamela Murison   +4 more
wiley   +1 more source

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

Molecular 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, Peng Lin, Xin Yuan, Ruimin Chen   +3 more
wiley   +1 more source

Persistent mullerian duct syndrome

Indian Journal of Radiology and Imaging, 2010
Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in which Mullerian duct derivatives are seen in a male patient. This syndrome is characterized by the persistence of Mullerian duct derivatives (i.e.
Renu Divya, Rao B, Ranganath K, Namitha
doaj   +3 more sources

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source