A Gender Assessment Team: experience with 250 patients over a period of 25 years

Parisi, Melissa A.; Ramsdell, Linda; Burns, Mark W.; Carr, Michael C.; Grady, Richard; Gunther, Daniel F.; Kletter, G. B.; McCauley, Elizabeth; Mitchell, Michael; Opheim, Kent E.; Pihoker, Catherine; Richards, Gail E.; Soules, Michael R.; Pagon, Roberta A

doi:10.1097/gim.0b013e3180653c47

Cited by 71 publications

(66 citation statements)

References 60 publications

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“…In a recent study from a gender assessment team in the United States that looked at DSD over a 25-year period, no patient with 17βHSD-3 deficiency was diagnosed [28]. Of the known cases of 17βHSD-3 deficiency, most of the patients have been reported in Europe, Asia, Australia and South America, whereas only 11 cases have been reported in the United States [13,22].…”

Section: Epidemiology and Demographicsmentioning

confidence: 99%

The Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency

et al. 2010

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17-β-hydroxysteroid dehydrogenase type 3 (17βHSD-3) deficiency is a rare, but frequently misdiagnosed autosomal recessive cause of 46,XY disorder of sex development (DSD). 17βHSD-3 enzyme is present almost exclusively in the testes and converts Δ4-androstenedione (Δ4) to testosterone (T). The diagnosis can be easily missed in early childhood as the clinical presentation may be subtle. Any young girl with an inguinal hernia, mild clitoromegaly, single urethral opening or urogenital sinus should raise suspicion. If not diagnosed early, patients present with severe virilization and primary amenorrhea in adolescence and may undergo a change from a female to male gender role. A low T/Δ4 ratio on baseline or hCG (human chorionic gonadotropin)-stimulated testing is suggestive of 17βHSD-3 deficiency. The diagnosis can be confirmed with molecular genetic studies. This review summarizes the clinical presentations, reported mutations, diagnosis, treatment and clinical course of this disorder. The Arg80 site in exon 3 is the most common location of repeated mutations and can be considered a hot spot in certain Arab populations.

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Section: Epidemiology and Demographicsmentioning

confidence: 99%

The Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency

et al. 2010

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“…Despite extensive evaluations, definitive diagnoses have been reached in only 40-50% of 46,XY DSD individuals [Albers et al, 1997;Ahmed et al, 2000;Morel et al, 2002]; among these, 5 ␣ -reductase-2 deficiency is very rare, at least in the Western countries [Wilson et al, 1993]. In a recent US series of 250 children with DSD, cases of 5 ␣ -reductase-2 deficiency were not documented [Parisi et al, 2007] and in the UK database, patients with this disorders represent about 4.5% of the total 46,XY DSD subjects (15/322) [Hughes, 2008]. Low frequency and inadequate protocols of investigation may contribute to under-diagnosis.…”

Section: Discussionmentioning

confidence: 99%

A Girl with Tomboy Behavior: Lesson from Misdiagnosis in a Baby with Ambiguous Genitalia

Dati

Baldinotti²,

Conidi³

et al. 2009

Sex Dev

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5α-Reductase-2 deficiency is a rare 46,XY disorder of sex differentiation caused by mutations in the 5α-reductase type 2 gene. It presents at birth with variable degree of undervirilization. Here, a baby with 5α-reductase-2 deficiency and misdiagnosis of complete androgen insensitivity syndrome, female sex assignment and early gonadectomy is described. During primary school, the girl developed tomboy behavior. Molecular analysis demonstrated compound heterozygosity for 5α-reductase type 2 gene mutations (exon 2: Q126R; exon 4: H230P). This child underlines the need for adequate endocrine and genetic testing for a definite diagnosis before gender is assigned in children with ambiguous genitalia and surgical interventions are carried out. Inadequate work-up may result in inappropriate gender assignment in infancy with possible inferences on outcome.

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“…Складність полягає в уточненні причини інверсії статі та можливості підтвердження діагнозу за допомогою молекулярно-генетичних досліджень. Терміни проведення хірургічних втручань, а саме -гонадектомії і/або пластики геніталій -повинні визначатись для кожного пацієнта індивідуально мультидисциплінарною командою [21] в складі генетика, фахівців педіатричного профілю: ендокринолога, хірурга, гінеколога, уролога, психолога. Сучасні генетичні дослідження дозволяють верифікувати діагноз, а знання щодо хромосомних поломок або патологічних генних мутацій дає можливість провести медико-генетичне консультування родини з метою визначення повторних ризиків при подальшому народженні дітей, ризику злоякісного переродження гонад у пробанда та імовірних ускладнень з боку інших органів та систем.…”

Section: висновкиunclassified