Table of Contents

INTRODUCTION

MPH DUE TO ABNORMALITIES IN GONADAL DEVELOPMENT

DYSGENETIC MALE PSEUDOHERMAPHRODITISM

Complete and partial 46,XY gonadal dysgenesis - OMIM 306100

Dosage-sensitive sex reversal - OMIM 300018

Embryonic testicular regression syndrome - OMIM 273250

Gonadal agenesis – OMIM 600171

Dysgenetic MPH due to underexpression of steroidogenic factor-1 (SF1) - OMIM 184757

Dysgenetic MPH due to overexpressin of WnT4 gene -OMIM 603490

Dysgenetic MPH due to underexpression of DMRT1 and DMRT2 genes - OMIM 602424

ATR-X syndrome (X-linked α-thalassemia and mental retardation) – OMIM 300032

Dysgenetic MPH due to underexpression of WT1 gene - OMIM 194070

Dysgenetic MPH associated with campomelic dysplasia (underexpression of SOX9) - OMIM 114290

Dysgenetic MPH due to Desert hedgehog (Dhh) underexpression – OMIM 605423

Dysgenetic MPH due to 45,X / 46,XY mosaicism

Abnormal gonads and tumor development

MPH due to Leydig cell hypoplasia - OMIM 152790

Complete form of Leydig cell hypoplasia

Partial form of Leydig cell hypoplasia

MPH DUE TO TESTOSTERONE SYNTHESIS DEFECT

Defect in Corticosteroid and Testosterone Synthesis

Congenital lipoid adrenal hyperplasia Deficiency of the acute steroidogenesis regulatory protein (StAR) Deficiency of P45011A gene

Deficiency of the acute steroidogenesis regulatory protein (StAR) - OMIM 600617

Deficiency of CYP11A gene - OMIM 118485

3b-Hydroxysteroid Dehydrogenase type II Deficiency -OMIM 201810

CYP17 (17-Hydroxylase and C-17-20 lyase deficiency) - OMIM 202110

Defects in Testicular Steroidogenesis

CYP17 (17,20 lyase activity) Deficiency - OMIM 309150

MPH due to 17β-HSD type 3 Deficiency - OMIM #264300

Altered steroidogenesis due to disrupted electron donor proteins

MPH DUE TO DEFECTS IN TESTOSTERONE METABOLISM

5α-Reductase type 2 Deficiency - OMIM *264600

MPH DUE TO DEFECTS IN ANDROGEN ACTION - OMIM 300068

MPH ASSOCIATED WITH MALFORMATION SYNDROME

PERSISTENT MÜLLERIAN DUCT SYNDROME - OMIM # 261550

NON-GENETIC MALE PSEUDOHERMAPHRODITISM

Maternal intake of estrogen and progestagens

MPH Associated to Reduced Prenatal Growth

NON-CLASSIFIED FORMS

Hypospadias

Transsexualism

MANAGEMENT OF PATIENTS WITH AMBIGUOUS GENITALIA

HORMONAL THERAPY

SURGICAL TREATEMENT

FERTILITY IN PATIENTS WITH MALE PSEUDOHERMAPHRODITISM

References