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Items: 1 to 20 of 152

1.
Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the AMHR2 Gene and Literature Review
Luminita Nicoleta Cima, Iustina Grosu, Isabela Magdalena Draghici, Augustina Cornelia Enculescu, Adela Chirita-Emandi, Nicoleta Andreescu, Maria Puiu, Carmen Gabriela Barbu, Simona Fica
Diagnostics (Basel) 2024 Dec; 14(23): 2621. Published online 2024 Nov 21. doi: 10.3390/diagnostics14232621
PMCID:
PMC11639886
AbstractArticlePDF–6.3M
2.
Testis tissue cryopreservation may be considered in boys with cryptorchidism
Linn Salto Mamsen, Simone Hildorf, Elissavet Ntemou, Danyang Wang, Dina Cortes, Jens Fedder, Jørgen Thorup, Claus Yding Andersen
Asian J Androl. 2024 Nov-Dec; 26(6): 610–616. Published online 2024 Jul 30. doi: 10.4103/aja202437
PMCID:
PMC11614173
AbstractArticlePDF–388K
3.
An uncommon presentation of persistent Mullerian duct syndrome: A 27-year-old male with Transverse Testicular Ectopia
Muhammad Shair Ismail, Urooj Fatima, Ahmad Ismail, Muhammad Bakhtiar, Aymn Mazhar
Int J Surg Case Rep. 2024 Dec; 125: 110555. Published online 2024 Nov 1. doi: 10.1016/j.ijscr.2024.110555
PMCID:
PMC11566888
AbstractArticlePDF–713K
4.
45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui
Front Pediatr. 2024; 12: 1460174. Published online 2024 Oct 16. doi: 10.3389/fped.2024.1460174
PMCID:
PMC11521797
AbstractArticlePDF–4.3M
5.
CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report
Miki Kamimura, Hirohito Shima, Erina Suzuki, Chisumi Sogi, Ikuma Fujiwara, Mika Adachi, Hidenori Haruna, Noriyuki Takubo, Maki Fukami, Atsuo Kikuchi, Junko Kanno
Clin Pediatr Endocrinol. 2024 Oct; 33(4): 214–218. Published online 2024 Jul 7. doi: 10.1297/cpe.2024-0006
PMCID:
PMC11442703
AbstractArticlePDF–862K
6.
A novel variant of ATRX gene is potentially associated with alpha-thalassemia X-linked intellectual disability syndrome: Case report and literature review
Berrada Sarah, Tazzite Amal, Gazzaz Bouchaib, Dehbi Hind
SAGE Open Med Case Rep. 2024; 12: 2050313X241277350. Published online 2024 Sep 14. doi: 10.1177/2050313X241277350
PMCID:
PMC11402074
AbstractArticlePDF–694K
7.
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu
J Med Genet. 2024 Aug; 61(8): 741–749. Published online 2024 Apr 15. doi: 10.1136/jmg-2024-109896
PMCID:
PMC11287555
AbstractArticlePDF–4.2M
8.
Placement of an artificial urethral sphincter in 8 male dogs with urethral diverticulum
Geoffrey Neumann, Catherine Vachon, William T.N. Culp, Carrie Palm, Julie K. Byron, Joanna Pogue, Marilyn Dunn
J Vet Intern Med. 2024 Jul-Aug; 38(4): 2171–2179. Published online 2024 May 15. doi: 10.1111/jvim.17102
PMCID:
PMC11256159
AbstractArticlePDF–2.7M
9.
Prune belly syndrome: A rare case report
Siddinath Gyawali, Balkrishna Gyawali, Bhumika Ghimire, Bibek Shrestha, Pratima Khanal, Geha Raj Dahal, Dinesh Prasad Koirala
Clin Case Rep. 2024 Jun; 12(6): e8922. Published online 2024 Jun 17. doi: 10.1002/ccr3.8922
PMCID:
PMC11183155
AbstractArticlePDF–561K
10.
The challenging diagnosis and management of the prune belly syndrome: A case report
Dhouha Kamoun, Amel Ben Hamed, Amina Abdenadher, Nadia Kolsi, Amira Bouraoui, Nedia Henteti
SAGE Open Med Case Rep. 2024; 12: 2050313X241258850. Published online 2024 May 28. doi: 10.1177/2050313X241258850
PMCID:
PMC11135099
AbstractArticlePDF–624K
11.
Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations
Vasil Toskov, Petra Kaiser-Labusch, Min Ae Lee-Kirsch, PRIM1 study group, Stephan Ehl, Oliver Wegehaupt
J Clin Immunol. 2024; 44(6): 129. Published online 2024 May 22. doi: 10.1007/s10875-024-01733-6
PMCID:
PMC11108906
AbstractArticlePDF–986K
12.
Anogenital distance in a cohort of 169 infant boys with uni- or bilateral cryptorchidism including 18 boys with vanishing testes
Dina Cortes, Margit Bistrup Fischer, Andrea E Hildorf, Erik Clasen-Linde, Simone Hildorf, Anders Juul, Katharina M Main, Jorgen Thorup
Hum Reprod. 2024 Apr; 39(4): 689–697. Published online 2024 Feb 19. doi: 10.1093/humrep/deae025
PMCID:
PMC10988100
AbstractArticlePDF–949K
13.
Cryptorchidism and puberty
Wiwat Rodprasert, Helena E. Virtanen, Jorma Toppari
Front Endocrinol (Lausanne) 2024; 15: 1347435. Published online 2024 Mar 12. doi: 10.3389/fendo.2024.1347435
PMCID:
PMC10963523
AbstractArticlePDF–961K
14.
Advocating hormonal treatment to prevent adult infertility in patients diagnosed with congenital undescended testes
Faruk Hadziselimovic
Int Braz J Urol. 2024 Jan-Feb; 50(1): 20–27. Published online 2024 Mar 18. doi: 10.1590/S1677-5538.IBJU.20244.9902
PMCID:
PMC10947647
AbstractArticlePDF–174K
15.
A Contemporary Review of Cryptorchidism Management in Adults: A Rare Presentation of Bilateral Cryptorchidism Presenting as Pelvic Pain in an Adult Patient
Colleen B Sholtes, Lauren A Tranthem, Fumihiko Nakamura, Katie Canalichio, Michael Goedde, Kellen Choi
Cureus. 2024 Jan; 16(1): e52933. Published online 2024 Jan 25. doi: 10.7759/cureus.52933
PMCID:
PMC10893955
AbstractArticlePDF–3.1M
16.
Bilateral versus unilateral orchidopexy: IVF/ICSI-ET outcomes
Lijuan Fan, Lin Shi, Shan Liu, Zhou Zhang, Juanzi Shi
Front Endocrinol (Lausanne) 2024; 15: 1294884. Published online 2024 Feb 1. doi: 10.3389/fendo.2024.1294884
PMCID:
PMC10867241
AbstractArticlePDF–479K
17.
When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD
Oscar Li, Andrew Gabrielson, Ming-Hsien Wang
Urol Case Rep. 2023 Nov; 51: 102572. Published online 2023 Sep 21. doi: 10.1016/j.eucr.2023.102572
PMCID:
PMC10561031
AbstractArticlePDF–1.4M
18.
An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence
Çiğdem Kunt İşgüder, Mine Kanat Pektaş, Doğan Köseoğlu, Şahin Takçı
Turk Patoloji Derg. 2020; 36(1): 64–67. Published online 2020 Jan 15. doi: 10.5146/tjpath.2018.01440
PMCID:
PMC10512687
AbstractArticlePDF–871K
19.
Splenogonadal fusion: A rare case report and literature review
Mahsa Salehi, Fatemeh Abedian Kenari, Maryam Ghasemi, Shafi Rehman, Mehrnaz Salehi, Hamid Reza Jafari
Int J Surg Case Rep. 2023 Aug; 109: 108480. Published online 2023 Jul 7. doi: 10.1016/j.ijscr.2023.108480
PMCID:
PMC10362365
AbstractArticlePDF–7.2M
20.
The Risk of Malignant Degeneration of Müllerian Derivatives in PMDS: A Review of the Literature
Federica Gagliardi, Augusto Lauro, Livia De Anna, Domenico Tripodi, Anna Esposito, Flavio Forte, Daniele Pironi, Eleonora Lori, Patrizia Alba Gentile, Ignazio R. Marino, Ernesto T. Figueroa, Vito D’Andrea
J Clin Med. 2023 May; 12(9): 3115. Published online 2023 Apr 25. doi: 10.3390/jcm12093115
PMCID:
PMC10179332
AbstractArticlePDF–809K

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