DIVISION OF PEDIATRIC UROLOGY

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Presentation transcript:

DIVISION OF PEDIATRIC UROLOGY UROGENITAL TRACT Male Development RICHARD SCHLUSSEL, M.D. DEPARTMENT OF UROLOGY DIVISION OF PEDIATRIC UROLOGY

Genital Development Chromosomal sex Gonadal sex Phenotypic sex

Week 5

Chromosomal sex Gonadal sex Phenotypic sex

Chromosomal sex SRY gene Sex determining Region of the Y chromosome - transcription factor SOX 9

Gonadal sex

Gonadal sex Sertoli cells Forms week 6 Organizes testis into cords Secrete AMH week 8 Anti Mullerian Hormone Leydig cell development

Gonadal sex Anti Mullerian Hormone Sertoli cells Forms week 6 Organizes testis into cords Secrete AMH week 8 Anti Mullerian Hormone Leydig cell development

AMH

Gonadal sex Leydig cells Secrete Testosterone Week 9-10 Preserve mesonephric ducts Regulated by chorionic gonadotropin Placenta Pituatary

Chromosomal sex Gonadal sex Phenotypic sex Internal genitalia (T) External genitalia (DHT)

Phenotypic sex Androgens Androgen receptors Testosterone (T) Dihydrotestosterone (DHT) Androgen receptors

Testicular descent

Normal Male Genitalia

Disordered development Klinefelter’s syndrome XX males Male pseudohermaphrodite Testicular feminization Persistent Mullerian duct syndrome Hypospadias Undescended testes

Klinefelter’s syndrome Chromosomal sex Failure meiosis Disjunction XXY Gonadal sex Phenotypic sex

Klinefelter’s syndrome XXY Small firm testes Gynecomastia Seminiferous tubular sclerosis High gonadotropins FSH 1 of 600 males

Hermaphrodite (Intersex) “An individual having the reproductive organs and many of the secondary sex characteristics of both sexes” “a discrepancy between the external genitals and the internal genitals” Hermaphroditus the son of Hermes and Aphrodite was fused with a nymph

Male pseudohermaphrodite Chromosomal sex Gonadal sex Phenotypic sex

Male pseudohermaphrodite 5α-reductase deficiency XY chromosomes!!

Testicular feminization (Androgen insensitivity) Chromosomal sex Gonadal sex Phenotypic sex

Testicular feminization (Androgen insensitivity) XY chromosomes!!

Hypospadias Abnormal androgen production Abnormal androgen sensitivity Arrested development Estrogen exposure ? ? ?

Hypospadias

Hypospadias

Hypospadias

Undescended Testes 3 MONTHS 7 MONTHS -Gubernaculum Endocrine - Insulin like factor3 Genitofem nerve CGRP (calcitonin gene Related Protein) 9 MONTHS

Undescended Testes Infertility Neoplasia Cosmesis Testis torsion

Chromosomal sex Gonadal sex Phenotypic sex

Chromosomal sex Gonadal sex Phenotypic sex

Persistent mullerian duct

Figure 106-20 Formation of genital ridges and paramesonephric ducts Figure 106-20 Formation of genital ridges and paramesonephric ducts. A, During the 5th and 6th weeks, the genital ridges form in the posterior abdominal wall just medial to the developing mesonephros. The primordial germ cells induce the coelomic epithelial cells lining the peritoneal cavity and the cells of the mesonephros to proliferate and form the primitive sex cords. B, During the 6th week, the paramesonephric ducts develop lateral to the mesonephros. The caudal tips of the paramesonephric ducts fuse with each other as they connect with the urogenital sinus. (Modified from Larsen WJ: Human Embryology. New York, Churchill Livingstone, 1997.)