Development and teratology of the urogenital system 25.3.2024 Anna Mac Gillavry rinary system Intermediate (mesoderm) Paraxial mesoderm Neural groove Embryonic ectoderm Lateral mesoderm B Notochord Coelomic spaces Amnion Pronephros: 4th week Mesonephros: 4th - 10th week (6th - 12th week) Metanephros: 5th to 9th week (12th week) Segmented intermediate mesoderm Unsegmented mesoderm Ureteric bud A (metanephric system) B T.W. Sadler, Langman's medical embryology, 12th edition esonephros Excretory tubule of mesonephros T.W. Sadler, Langman's medical embryology, 12th edition Metanephros Allantois Urorectal septum Cloaca Ureteric bud Hindgut Mesonephric tissue y Mesonephric duct Metanephric blastema Major calyx Metanephric blastema Pelvis . if, Ureter Renal B pelvis Collecting tubules Outgrowing collecting tubules Minor calyx T.W. Sadler, Langman's medical embryology, 12th edition Metanephric tissue caps Cell clusters .4SI j Nephron if ^ qi Renal Collecting vesjc|e Bowman A tubule B C capsule Distal convoluted tubule Henle loop Bowman capsule Collecting tubules Henle loop Glomerulus Distal convoluted tubule Proximal convoluted tubule Ascending and descending limb of Henle loop Glomerulus Bowman's capsule T.W. Sadler, Langman's medical embryology, 12th edition Oft Nl W CM Mm MM a MM* M 1 BrownMed Renal defects • Renal agenesis: - unilateral (1/1000); - bilateral (1/3000-10000); - 3:1 males to females; - Potter sequence: anuria, oligohydramnios, pulmonary hypoplasia, Potter face https://www.brown.edu/Courses/Digital_Path/systemic_path/renal/R18 https://l.bp.blogspot.com/-CWlNqZyu_Sk/UlrMlXyuUal/AAAAAAAADZk/KdZn-NisJ0M/s320/ oligohydramnios-severe-leA.jpg POTTfcR SÉ.Ô0e,N6£ * (jAOaxvi) pvf f tas wtweogw MM-fcS * Crust* 8v OLlfrDHYDEftMMiftS Pi II utnu i___„ LOW AMNIOTIC R.UID rvlMOKJftW HYPOPLASIA ^ • Renal displasia - Multicystic displastic kidney • Congenital polycystic kidney disease: - autosomal recessive (1/5000) - autosomal dominant (1/500-1000) - group of cilliopathties Bardet-Biedl syndrome, Mackel-Gruber syndrom (lethal) https://prod-images-static.radiopaedia.org/images/54791799/B_gallery.jpeg • Duplication of the ureter - splitting of the uretric bud • Ectopic ureter - development of two uretric buds • Supernumerary kidney Abnormal location: - pelvic kidney - horseshoe kidney (1/600) - unilatelar fused kidney - accessory (suprenumeral) renal arteries -25 % of kidneys have 2 to 4 arteries https://embryology.med.unsw.edu.au/embryology/images/b/b8/Accessory_renal_artery Renal tumors • Wilms tumor - affects children by 5 years of age incl. fetal period - WAGR Syndrom (microdeletion on chromsome 11 WT1 and PAX6genes) Wilms tumor Aniridia Gonadoblastomas Retardation (intellectual disability) Denys-Drash syndrom Bladder and urethra Urogenital sinus: - vesical part - pelvic part - phallic part Mesonephric Allantois duct Primitive urogenital sinus Cloacal Hindgut membrane Urorectal Anorectal septum cana, Mesonephric Bladder duct Í Perineal body / Phallus^ Ureter B Urachal abnormalities urachal fistula urachal cyst urachal sinus Urachal fistula Median umbilical ligament Urinary bladder Symphysis Urethra Urachal cyst Urachal sinus Figure 16.15 A. Urachal fistula. B. Urachal cyst. C. Urachal sinus.The sinus may or may ni tion with the urinary bladder. T.W. Sadler, Langman's medical embryology, 12th edition Ventral body wall deffects • Extrophy of the bladder: (1/50000) • Extrophy of the cloaca: (1/200000) CLOACAL EXSTROPHY Hemibladder Prolapsed bowel Tailgut Omphalocele Hemibladder Ileocecal area COMPREHENSIVE COLORECTAL CENTER PRIMARY OMPHALOCELE CLOSURE Midline closure I Colostomy Hemibladder COMPREHENSIVE COLORECTAL CENTER T.W. Sadler, Langman's medical embryology, 12th edition COMPLETE CLOSURE WITH COLOSTOMY AND VESICOSTOMY Midline closure I - Colostomy - Vesicostomy COMPREHENSIVE COLORECTAL CENTER https://www.childrensmercy.org/departments-and-clinics/colorectal-center/anorectal-malformation/cloacal-exstrophy/ Reproductive system Gonad Mesonephros Mullerian duct Wolffian duct Cloaca INDIFFERENT STAGE Í Epididymis Testis Vas deferens Urinary bladder Seminal vesicle Prostate gland Ovary Oviduct Degenerating Wolffian duct Uterus Urinary bladder Vagina MALE FEMALE www.dailykos.com Indifferent stage of the gonads Indifferent stage of the genital ducts T.W. Sadler, Langman's medical embryology, 14th edition Differentiation of the ducts - females Abdominal ostium of uterine tube Suspensory ligament of ovary Fimbriae Epoophoron Cortical cords of ovary I lul V, 1l Mesonephros Ligament of ovary proper / Mesovarium Paroophoron y\\ Round ligament of uterus -Corpus uteri i i Mesonephric duct Uterine canal Gartner cyst inus tubercle ß T.W. Sadler, Langman s medical embryology, 14th edition Development of the vagina T.W. Sadler, Langman's medical embryology, 14th edition Differentiation of the ducts - males Epigenital tubules Paragenital tubules-t Rete testis Testis cords f~ Tunica albuginea Vas deferens - fc^-'/ Mesonephric - - duct "v Sinus tubercle Efferent ductules Epididymis Seminal vesicle Utriculus prostaticus Appendix epididymis / -r- Appendix testis Testis cord '+- Rete testis Paradidymis B T.W. Sadler, Langman's medical embryology, 14th edition Indifferent stage of the external genitalia T.W. Sadler, Langman's medical embryology, 14th edition Disorders of sexual development (DSDs) • Ambigous genitalia: clitoral hypertrophy/small penis with hypospadia • 46, XX DSDs: - - congenital adrenal hyperplasia, most common cause -60% of all DSDs • 46, XY DSDs: - androgen insensitivity syndrom (AIS): complete (CAIS), mild (MAIS) or partial (PAIS) - 5-a-reductase deficiency: testosteron convertion into dihydrotestosteron is impaired Ovotesticular DSDs - the caryotype is 46, XX in 70 % of cases Chromosomal abberations • Klinefelter syndrom - 47, XXY (XXXY...) - 1/1000 males: decreased fertility, small testes, decreased testosteron levels, gynecomastia in app. 33% • Gonadal dysgenesis - oocytes are absent: - Swyer syndrome - XY female gonadal dysgenesis - point mutation or deletions of the SRY gene - Turner syndrome - 45, X Hernias and cryptorchidism • Congenital inderect inguinal hernia • Hydrocele of the testis and/or spermatic cord • Cryptorchidism Uterine and vaginal defects Indentation Uterine tube Uterus didelphys with double vagina Uterus bicornis unicollis 1 rudimentary horn Uterus arcuatus Cervical atresia o\ 1 Uterus bicornis Open part of vagina Vaginal atresia T.W. Sadler, Langman's medical embryology, 14th edition Defects in male genitalia • Hypospadia -3-5/1000 • Epispadia - 1/30000 - most often associated with extrophy of the bladder and abnormal closure of the ventral body wall • Micropenis - insufficient androgen stimulation - primary hypogonadism, hypothalamic or pituitary disfunction • Bifid penis