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Year Number of Results
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173 results

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Quoted phrase not found in phrase index: "External genital hypoplasia"
Page 1
Congenital uterine malformations.
Woodward PJ, Sohaey R, Wagner BJ. Woodward PJ, et al. Curr Probl Diagn Radiol. 1995 Sep-Oct;24(5):178-97. doi: 10.1016/s0363-0188(95)90007-1. Curr Probl Diagn Radiol. 1995. PMID: 8536487 Review.
Because these anomalies are associated with reproductive dysfunction, they are often discovered during an infertility evaluation. By imaging parallel to the long axis of the uterus, the external contour can be evaluated, obviating laparoscopy for differentiating septate fr …
Because these anomalies are associated with reproductive dysfunction, they are often discovered during an infertility evaluation. By imaging …
A review of the management of intersex.
Calleja-Agius J, Mallia P, Sapiano K, Schembri-Wismayer P. Calleja-Agius J, et al. Neonatal Netw. 2012 Mar-Apr;31(2):97-103. doi: 10.1891/0730-0832.31.2.97. Neonatal Netw. 2012. PMID: 22397794 Review.
The birth of an individual with a blend of both male and female internal or external genitalia is known as an intersex condition. The incidence of genital anomalies is estimated to occur in 1 in 4,500 live births. Each intersex condition is determined by the …
The birth of an individual with a blend of both male and female internal or external genitalia is known as an intersex conditi …
MAMLD1 and Differences/Disorders of Sex Development: An Update.
Miyado M, Fukami M, Ogata T. Miyado M, et al. Sex Dev. 2022;16(2-3):126-137. doi: 10.1159/000519298. Epub 2021 Oct 25. Sex Dev. 2022. PMID: 34695834 Free article. Review.
MAMLD1 (alias CXorf6) was first documented in 2006 as a causative gene of 46,XY differences/disorders of sex development (DSD). MAMLD1/Mamld1 is expressed in the fetal testis and is predicted to enhance the expression of several Leydig cell-specific genes. To date, hemizyg …
MAMLD1 (alias CXorf6) was first documented in 2006 as a causative gene of 46,XY differences/disorders of sex development (DSD). MAMLD1/Mamld …
Why we need a higher suspicion index of urolithiasis in children.
Marzuillo P, Guarino S, Apicella A, La Manna A, Polito C. Marzuillo P, et al. J Pediatr Urol. 2017 Apr;13(2):164-171. doi: 10.1016/j.jpurol.2016.12.021. Epub 2017 Jan 29. J Pediatr Urol. 2017. PMID: 28185760 Review.
BACKGROUND: Most children with symptoms of urolithiasis and urinary solute excretion abnormalities leading to stone formation have no calculi revealed by ultrasound or X-ray plain film ("occult urolithiasis"). ...CONCLUSIONS: It is important to investigate for urolithiasis …
BACKGROUND: Most children with symptoms of urolithiasis and urinary solute excretion abnormalities leading to stone formation have no …
Abnormalities of the external genitalia.
Baldinger L, Mudegowdar A, Shukla AR. Baldinger L, et al. Clin Perinatol. 2014 Sep;41(3):709-24. doi: 10.1016/j.clp.2014.05.016. Epub 2014 Jul 23. Clin Perinatol. 2014. PMID: 25155737 Review.
Abnormalities of the external genitalia span the spectrum from subtle findings of limited clinical significance to profound anomalies that call into question such essential questions as sex determination. ...To that end, this article seeks to present a survey …
Abnormalities of the external genitalia span the spectrum from subtle findings of limited clinical significance to prof …
The genetic factors contributing to hypospadias and their clinical utility in its diagnosis.
Joodi M, Amerizadeh F, Hassanian SM, Erfani M, Ghayour-Mobarhan M, Ferns GA, Khazaei M, Avan A. Joodi M, et al. J Cell Physiol. 2019 May;234(5):5519-5523. doi: 10.1002/jcp.27350. Epub 2018 Sep 21. J Cell Physiol. 2019. PMID: 30238986 Review.
It results from abnormal penile and urethral development, but is a multifactorial disorder that is highly heterogeneous, with several genetic and environmental determinants. Monogenic and chromosomal abnormalities are present in approximately 30% of cases, although the gen …
It results from abnormal penile and urethral development, but is a multifactorial disorder that is highly heterogeneous, with several geneti …
Long-term management of patients with disorders of sex development (DSD).
Hiort O. Hiort O. Ann Endocrinol (Paris). 2014 May;75(2):64-6. doi: 10.1016/j.ando.2014.03.008. Epub 2014 Apr 17. Ann Endocrinol (Paris). 2014. PMID: 24746403 Review.
Differences or disorders of sex development (DSD) describe a biological discrepancy between chromosomal, gonadal, and phenotypical sex, often affecting the morphology of the genito-reproductive organs. DSD is most often due to genetic abnormalities affecting chromosomal co …
Differences or disorders of sex development (DSD) describe a biological discrepancy between chromosomal, gonadal, and phenotypical sex, ofte …
Limb malformations and the human HOX genes.
Goodman FR. Goodman FR. Am J Med Genet. 2002 Oct 15;112(3):256-65. doi: 10.1002/ajmg.10776. Am J Med Genet. 2002. PMID: 12357469 Review.
Humans, like most vertebrates, have 39 HOX genes organized into four clusters, with major roles in the development of the central nervous system, axial skeleton, gastrointestinal and urogenital tracts, external genitalia, and limbs. The first two limb malformations …
Humans, like most vertebrates, have 39 HOX genes organized into four clusters, with major roles in the development of the central nervous sy …
Abnormalities of sexual differentiation: evaluation and management.
Reindollar RH, Tho SP, McDonough PG. Reindollar RH, et al. Clin Obstet Gynecol. 1987 Sep;30(3):697-713. doi: 10.1097/00003081-198709000-00025. Clin Obstet Gynecol. 1987. PMID: 3308258 Review.
Both male and female sexual differentiation follow a timetable of events with predictable development of the gonads, internal genital ducts, and the external genitalia. ...The abnormalities may result in abnormal differentiation of the gonads, t …
Both male and female sexual differentiation follow a timetable of events with predictable development of the gonads, internal geni …
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
Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), and buried penis with bifid scrotum (n=1) in postnatal examinations. The positive predictive value of prenatal ultrasound for any …
Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), …
173 results