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Symptoms and Signs – Differential Diagnosis of Micropenis
HYPOGONADOTROPIC HYPOGONADISM
• Kallmann’s syndrome: autosomal dominant; associated with hyposmia
• Prader-Willi syndrome: hypotonia, mental retardation, obesity,
small hands and feet
• Rud’s syndrome: hyposomia, ichthyosis, mental retardation
• de Morsier’s syndrome (septo-optic dysplasia): hypopituitarism,hypoplastic optic discs, absent septum pellucidum
HYPERGONADOTROPIC HYPOGONADISM
• Primary testicular defect: disorders of testicular differentiation or
inborn errors of testosterone synthesis
• Klinefelter’s syndrome
• Other X polysomies (i.e., XXXXY, XXXY)
• Robinow’s syndrome: brachymesomelic dwarfism, dysmorphic facies
PARTIAL ANDROGEN INSENSITIVITY
• Idiopathic
• Defective morphogenesis of the penis
HYPOGONADOTROPIC HYPOGONADISM
• Kallmann’s syndrome: autosomal dominant; associated with hyposmia
• Prader-Willi syndrome: hypotonia, mental retardation, obesity,
small hands and feet
• Rud’s syndrome: hyposomia, ichthyosis, mental retardation
• de Morsier’s syndrome (septo-optic dysplasia): hypopituitarism,hypoplastic optic discs, absent septum pellucidum
HYPERGONADOTROPIC HYPOGONADISM
• Primary testicular defect: disorders of testicular differentiation or
inborn errors of testosterone synthesis
• Klinefelter’s syndrome
• Other X polysomies (i.e., XXXXY, XXXY)
• Robinow’s syndrome: brachymesomelic dwarfism, dysmorphic facies
PARTIAL ANDROGEN INSENSITIVITY
• Idiopathic
• Defective morphogenesis of the penis
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