55ESPE 349--P1 reconstruction urological surgery (Figure A The rare phenotype of absence of Objective: treatment for a unique To elucidate the genetic cause and the optimal the finding of testis in labia old change to malegender assignment Consanguineous Methodsand results: Figure  Conclusion:    treatment. 3 corpus after palpable clitoriswith enlarged B,A, C     5 Background: 4 months - neonatal It The new Y gender Further The months trial of daily local dihydrotestosterone alpha phenotypical assignment. is pubertal Early change in virilization isoenzyme activity Pubertal virilization Neonatal presentation is maleunder an Disclosure Statement: Medical Genetics Institute, Division of pediatric endocrinology and Department Adi results unique ina dihydrotestosterone administrationearly childhood during by p.Y Severe - 2 critical for autosomal recessive - prepubertal external genitalia after local Dihydrotestosterone Auerbach - A reductase diagnosis diagnosis A assignment recommendations. studies correlating quantitative Adi Auerbach Gonads &DSD virilization rise in testosterone and phenotype. gender , which commonly 91 with Palestinian parents requested a early treatment (external genitalia ) girlfollowing H mutationSRD inthe , - Ariella Weinberg 91 and and good prediction of the 2 ambiguous ambiguous genitalia. ( assignment The authors have nothing to disclosure.Thehave authorsnothing use oflocal 5 46 5 results in pubertal α related to the diagnosis - ,XY DSD ,XY patient. H SRD RD aphallic (Figure alpha reductase 46 2 ) ,XY ,XY deficiency: Shaare and and gender leads 1 clitoromegaly DSD . 1 in their ). dihydrotestosterone Shokrun XY 5 α to Zedek - 3 - 5 DSD phenotype. The very lowDSD phenotype. ratio of - RD ). 2.5 A 5 1 , A B Medical Center, Jerusalem, Israel najwa y 2 2 and and complete B gene, causes severe 5 administration α mutation andisresponsive to - Abdelhak RD jel 2 of treatment enzymatic activityto may genotypephenotype and enable testosterone High hypoplastic Figure Urology Hebrew Hadassah University Medical Center, is efficientdeveloping in peniscorpus a even in aphallia , Figure Eran anogenital resulted in dramatic enlargement of the 1 containingpalpable normal - 2 Lavi external genitalia before treatment. 2 labia minoralabia with - complicated the adherence to the parents' request for male gender assignment. responsive genitalia 271 Sequencing of the Sequencing of , deficiency with 5 appearing labia appearing ratio Hidas α T>C ,Y - DOI: 10.3252/pso.eu.55ESPE.2016 RD (o. Guy, 2 91 78 enzymatic dysfunctionas reflected in urine H ) C (Male > testis. mutation Yehezkel 5 C complete alpha toalpha majora 5 a 0.5 RD . . ) Landau, Landau, 2 aphallia - indicating gene 5 betasteroid metabolites may explain thissevere - . Ephrat presented Poster rudimentary clitoris Levy at: aphallia Severe dysfunction of the mutated Urinary steroid metabolites profile 271 • • • • • • Laboratory examinations Jerusalem, Israel. - undervirilization Lahad Metabolite Is the extreme low ratios explain the extreme aTHB aTHF transmembranal “ SRD deficiency. testis of fetal testosterone XY a high glucocorticoids normal 46 T>C aphallia testosterone/androstenedione ratio treatment. long 4 clitorisafter shaped penile D karyotype + evidences XY , David 5 - / , Y / months HCG stimulated testosterone THB A enlarged THF =high karyotype, 2 91 basal and basal and ACTH stimulated s gene Sequencing to aphallus of > H mutationH ” D . early comprehensive and Zangen probability for D and and is caused levels metabolites domain domain (figure . aphallia ratio 0.22 such asdescended , in : 0 5 2 α to the presence : cm length enabling ? 5 - RD α - Normal ratio RD 2 : 5 2 1.01 1.88 α 2 ). - RD 3 - - m 3.33 4.68 2 of - 2 6 . 2.4 y