Results 11 to 20 of about 9,214 (219)

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity. [PDF]

Case Rep Med
Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Oğlak SC, Söğütçü N, Akgöl S, Adıgüzel Ö, Ateş Eminoğlu HE, Güzel G, Balcı V, Acar E, Acar A, Bozan F.   +9 more
europepmc   +2 more sources

Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development. [PDF]

Case Rep Genet
The SRD5A2 gene encodes the steroid 5α‐reductase‐2 isozyme, which converts testosterone to dihydrotestosterone and plays a key role in sexual development and androgen physiology. Deficiency of this enzyme leads to an autosomal recessive sex‐linked disorder associated with ambiguous genitalia and hypovirilization/complete feminization of external ...
Rawal L, Panwar D, Kumar R, Sharma G, Jangra S, Nakra R, Lal V, Thamtam VK.   +7 more
europepmc   +2 more sources

Prevalence and Characteristics of Prostatic Utricles: A Retrospective MRI Study in Middle-Aged to Elderly Men. [PDF]

Prostate
ABSTRACT Background Congenital urological malformations encompass a wide range of anomalies affecting the urinary tract and reproductive organs. MRI has emerged as a diagnostic tool in identifying these conditions. Prostatic utricle is an enlarged diverticulum in the posterior urethra, which results from incomplete degradation of the Müllerian ducts or
Bashi T, Kamshov S, Kidron A, Barnes S, Nevo A, Dekalo S, Bar-Yosef Y.   +6 more
europepmc   +2 more sources

Fortuitous Persistent Müllerian Duct Syndrome Diagnosis in an Adult Patient With Hematuria: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Persistent Müllerian duct syndrome is a genetic disorder. It consists of Müllerian duct remains due to improper anti‐Müllerian hormone. Early life presentation is often associated with undescended testes or inguinal hernias. Late diagnosis is rarer and poses a diagnostic challenge.
Boitsios A, Schick T, Brawermann R, Buggenhout A.   +3 more
europepmc   +2 more sources

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

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

Classification conundrum: Persistent mullerian duct syndrome with hypospadias

Archives of Medicine and Health Sciences, 2016
The disorders of sex development (DSD) are uncommon and have wide phenotypic variation. Due to this, they often cannot be classified properly and go unreported.
Sheetal Arora, Ashish Kumar Mandal
doaj   +1 more source

Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor [PDF]

Endocrinology and Metabolism, 2015
Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women
Su Jin Lee, Je Eun Song, Sena Hwang, Ji-Yeon Lee, Hye-Sun Park, Seunghee Han, Yumie Rhee   +6 more
doaj   +1 more source

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

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