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Year Number of Results
1975 1
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2008 1
2011 1
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2014 3
2015 1
2016 1
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2020 1
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2022 3
2023 1
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Page 1
Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.
Liu Q, Yin X, Li P. Liu Q, et al. Endocr Pract. 2022 Sep;28(9):859-866. doi: 10.1016/j.eprac.2022.06.002. Epub 2022 Jun 11. Endocr Pract. 2022. PMID: 35700942 Free article.
RESULTS: The prevalence of female sex assignment (P = .008) and the incidences of cryptorchidism (P = .0003) and bifid scrotum (P = .0002) in the non-p.R227Q variant group were higher, but there were no significant differences in the incidences of hypospadias and is …
RESULTS: The prevalence of female sex assignment (P = .008) and the incidences of cryptorchidism (P = .0003) and bifid scrotum …
Genital anomalies in Klinefelter's syndrome.
Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Lee YS, et al. Horm Res. 2007;68(3):150-5. doi: 10.1159/000106375. Epub 2007 Jul 19. Horm Res. 2007. PMID: 17641549 Review.
RESULTS: We present seven Klinefelter patients with abnormalities of the genitalia, ranging from mild anomalies (chordee) to moderate undervirilisation (bifid scrotum and perineal hypospadias). Two cases were true hermaphrodites with karyotypes 47,XXY and 47,XXY/46, …
RESULTS: We present seven Klinefelter patients with abnormalities of the genitalia, ranging from mild anomalies (chordee) to moderate underv …
Prenatal Diagnosis and Classification of Fetal Hypospadias: The Role and Value of Magnetic Resonance Imaging.
Li K, Zhang X, Yan G, Zheng W, Zou Y. Li K, et al. J Magn Reson Imaging. 2021 Jun;53(6):1862-1870. doi: 10.1002/jmri.27519. Epub 2021 Feb 19. J Magn Reson Imaging. 2021. PMID: 33608950
ASSESSMENT: Diagnosis and classification of hypospadias using MRI were performed by three experienced radiologists based on MRI features, including a short penile shaft, abnormal penile tip, penile curvature, bifid scrotum, "tulip sign," and penoscrotal transpositio …
ASSESSMENT: Diagnosis and classification of hypospadias using MRI were performed by three experienced radiologists based on MRI features, in …
Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development.
Elias FM, Nishi MY, Sircili MHP, Bastista RL, Gomes NL, Ferrari MTM, Costa EMF, Denes FT, Mendonca BB, Domenice S. Elias FM, et al. Mol Genet Genomic Med. 2022 Dec;10(12):e2084. doi: 10.1002/mgg3.2084. Epub 2022 Nov 11. Mol Genet Genomic Med. 2022. PMID: 36369742 Free PMC article.
METHODS: Eighteen 46,XY DSD patients who presented atypical genitalia (undescended testis and/or hypospadias, bifid scrotum or micropenis) at birth and 36 male control individuals were selected. ...These results are in agreement with previous literature reports, in …
METHODS: Eighteen 46,XY DSD patients who presented atypical genitalia (undescended testis and/or hypospadias, bifid scrotum or …
Predictive value of ultrasound in prenatal diagnosis of hypospadias: hints for accurate diagnosis.
Uygur L, Sivrikoz TS, Kalelioglu IH, Has R, Isguder CK, Oktar T, Basaran S, Yuksel A. Uygur L, et al. J Perinat Med. 2023 May 8;51(7):932-939. doi: 10.1515/jpm-2023-0003. Print 2023 Sep 26. J Perinat Med. 2023. PMID: 37144940
The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagnosis and the predictive values of each sonographic finding were assessed according to the postnatal clinical examinations. ...Five fet …
The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagno …
Genital malformation: Trigger of the diagnosis of severe variants of Klinefelter syndrome.
Fadil Iturralde JL, Marani J, Lahoz García M, Carbognani S, Luccerini V, Damiani HJ, Contardi JC. Fadil Iturralde JL, et al. Rev Chil Pediatr. 2020 Feb;91(1):111-115. doi: 10.32641/rchped.v91i2.1260. Epub 2019 Dec 3. Rev Chil Pediatr. 2020. PMID: 32730421 Free article. English, Spanish.
CLINICAL CASES: Case 1: Diagnosis of atypical genitalia at birth: Small and curved phallus with the urethral meatus at scrotal level, and bifid scrotum. No other somatic abnormality was observed, except for subtle clinodactyly of the fifth finger. ...Case 2: …
CLINICAL CASES: Case 1: Diagnosis of atypical genitalia at birth: Small and curved phallus with the urethral meatus at scrotal level, and …
Mutations of CXorf6 are associated with a range of severities of hypospadias.
Kalfa N, Liu B, Klein O, Audran F, Wang MH, Mei C, Sultan C, Baskin LS. Kalfa N, et al. Eur J Endocrinol. 2008 Oct;159(4):453-8. doi: 10.1530/EJE-08-0085. Epub 2008 Jul 17. Eur J Endocrinol. 2008. PMID: 18635673
OBJECTIVE: Mutations in chromosome X open reading frame 6 (CXorf6), a recently described candidate gene involved in the development of male genitalia, have been found in patients with complex 46,XY disorders of sexual development (46,XY DSD) including micropenis, bifid …
OBJECTIVE: Mutations in chromosome X open reading frame 6 (CXorf6), a recently described candidate gene involved in the development of male …
A comprehensive newborn exam: part II. Skin, trunk, extremities, neurologic.
Lewis ML. Lewis ML. Am Fam Physician. 2014 Sep 1;90(5):297-302. Am Fam Physician. 2014. PMID: 25251089 Free article.
Although these findings are often benign, it is important to visualize the entire skin surface to distinguish these findings and appropriately reassure parents. The chest should be observed for symmetric movement, pectus excavatum, pectus carinatum, prominent xiphoid, or b …
Although these findings are often benign, it is important to visualize the entire skin surface to distinguish these findings and appropriate …
Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL. Schimmenti LA, et al. Am J Med Genet. 1995 May 22;57(1):52-6. doi: 10.1002/ajmg.1320570112. Am J Med Genet. 1995. PMID: 7645598 Review.
Partial deletion of the short arm of chromosome 9 (p24-->pter) and partial duplication of the long arm of chromosome 5 (q32-->qter) were observed in an abnormal boy who died at age 8 weeks of a complex cyanotic cardiac defect. He also had minor anomalies, sagittal cr …
Partial deletion of the short arm of chromosome 9 (p24-->pter) and partial duplication of the long arm of chromosome 5 (q32-->qter) we …
Bifid scrotum and anocutaneous fistula associated with a perineal lipomatous tumor complicated by temporary bilateral cryptorchidism in utero mimicking ambiguous genitalia: 2-D/3-D fetal ultrasonography.
Inde Y, Terada Y, Ikegami E, Sekiguchi A, Nakai A, Takeshita T. Inde Y, et al. J Obstet Gynaecol Res. 2014 Mar;40(3):843-8. doi: 10.1111/jog.12232. J Obstet Gynaecol Res. 2014. PMID: 24738127
Findings mimicking AG, such as penoscrotal anomalies, anorectal malformations, and perineal lipomatous tumors, may prevent accurate identification of the fetal sex. We report a case of bifid scrotum and anocutaneous fistula associated with a perineal lipomatous tumo …
Findings mimicking AG, such as penoscrotal anomalies, anorectal malformations, and perineal lipomatous tumors, may prevent accurate identifi …
17 results