Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]
, 1996 Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan +14 more
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How often are clinicians performing genital exams in children with disorders of sex development? [PDF]
, 2017 Background: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic.
Eugster, Erica A., Tica, Stefani S.
core +1 more source
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]
, 2005 Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Achermann, JC +8 more
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Clitoral Epidermoid Cyst Presenting as Pseudoclitoromegaly of Pregnancy
American Journal of Perinatology Reports, 2013 Objective Acquired clitoromegaly is rare and may result from hormonal and nonhormonal causes, and evaluation of the pregnant patient with clitoromegaly invokes a specific set of differential diagnoses.
Jing W. Hughes +7 more
doaj +1 more source
Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults [PDF]
, 2013 Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype.
De Visschere, Pieter +4 more
core +4 more sources
Journal of Pediatric Research, 2022 Androgen-secreting adrenal tumors are aggressive cancers in childhood; however, they are rare in clinical practice. Children with adrenal carcinoma usually present with peripheral precocious puberty, premature pubarche, signs of virilization and ...
Seyran Bulut +7 more
doaj +1 more source
Reduction Clitoroplasty with Preservation of the Dorsal Neurovascular Pedicle in a 6-Year-Old Female: A Case Report [PDF]
Archives of Aesthetic Plastic Surgery, 2016 A 6-year-old female presented to our hospital with clitoromegaly. On physical examination, she demonstrated evidence of precocious pubic hair and clitoromegaly. The relaxed clitoris measured 3.7 cm in length.
Hyochun Park +3 more
doaj +1 more source
Polycystic ovary syndrome: a dermatologic approach [PDF]
, 2011 Polycystic ovary syndrome (POS) is one of the most common endocrine abnormalities affecting women of reproductive age. It is a cause of significant social embarrassment and emotional distress.
Bagatin, Edileia +4 more
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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
doaj +1 more source
Cavernous haemangioma mimicking as clitoral hypertrophy
African Journal of Paediatric Surgery, 2014 Haemangioma is the most common benign neoplasm of infantile age. It is most commonly located in head and neck region, trunk and extremities but very rarely it can be located at clitoris. However, it is very important to differentiate clitoral haemangioma
Sajid Nayyar +3 more
doaj +1 more source