Results 11 to 20 of about 8,864 (242)
Plexiform neurofibroma presenting as ambiguous genitalia
Nigerian Journal of Medicine, 2023 Plexiform neurofibroma rarely affects the external genitalia and is a rare cause of clitoromegaly. The essential aspect of the management is doing a clitoroplasty with the preservation of glandular and neurovascular tissues.
Obinna Remigius Okwesili +2 more
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An infant with 49XXXXY syndrome: a case report
Journal of Medical Case Reports, 2021 Background 49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000–100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka.
N. P. G. C. R. Naotunna +2 more
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Microcephaly with ambiguous genitalia
Medical Journal of Dr. D.Y. Patil University, 2015 Ambiguous external genitalia could cause parental emotional trauma especially in an African setting where early gender assignment is an integral part of our culture.
Ibrahim Aliyu
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Advanced Biomedical Research, 2014 Background: Ambiguous genitalia is a hereditary disorder that usually requires early attention and detection. The discovery of ambiguous genitalia in a neonate is situation that could be difficult to manage, not only because of complications such as salt-
Amir-Mohammad Armanian +5 more
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A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report [PDF]
Iranian Journal of Neonatology, 2019 Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of
Bansal Sharad +2 more
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Ambiguous genitalia: A rare case report
Indian Journal of Pathology and Microbiology, 2016 Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development (DSD). A seven-year-old child with vagina and an elongated clitoris looking like a penile part of male external genitalia, presented in the Paediatric Surgery Department.
Padam Kumari Agarwal +3 more
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Sirenomelia: The mermaid syndrome - A rare case report
BLDE University Journal of Health Sciences, 2020 Background: Mermaid syndrome, also known as Sirenomelia, a rare congenital anomaly in which the legs are fused together, giving the appearance of a tail of a mermaid from Greek mythology, occurring 1 in 1,00,000 live births.
Shreedevi Kori, Lathavarma
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Radiology Case Reports, 2018 Imaging plays a pivotal role in evaluating the urogenital anatomy in children with ambiguous genitalia. Contrast enhanced genitosonography (CEGS) represents a low-cost and radiation-free alternative to the traditional techniques of fluoroscopic ...
Nicolas Seranio, BS +3 more
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De morseir syndrome presenting as ambiguous genitalia
Indian Journal of Endocrinology and Metabolism, 2012 Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity.
Anubhav Thukral +10 more
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A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report
Acta Medica Indonesiana, 2023 A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad.
Amanda Trixie Hardigaloeh +8 more
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