CONGENITAL ABNORMALITIES GYNECOLOGY PEDIATRICS

CONGENITAL ABNORMALITIES

1. Caused by a genetic error/ teratogenic events Many are asymptomatic May present at varying times Incidence rate 1-3 %

2. Ambigous genitalia A range of abnormalities can be identified Occurs in a wide spectrum Labioscrotal fusion Enlarged clitoris with a penile urethra Urogenital sinus Clitoralmegaly Normal introitus Initial evaluation: Karyotyping, Transabdonimal ultrasound, serum electrolytes & steroid hormone levels

3. Perineal and hymenal anomalies

4. Clitoral anomaly Usually unusual May be enlarged because of androgen stimulation Extreme cases of androgen stimulation  labial fusion Occurs in infants with CAH & those exposed in utero or exo /endogenous androgens Under developed male external genitalia and a small phallus appears as clitoral hypertrophy Bifid clitoris usually seen in association with bladder extrophy Anterior rotation & shortening of vagina with labial fusion

5. Labial fusion May occur without clitoralmegaly May result from exposure to exogenous androgens May be associated with defects of the abdominal wall

6. Congenital adrenal hyperplasia Most common form is caused by an inborn error of metabolism (21 hydroxylase enzyme deficiency) Less common enzyme defects: (1) 11-hydroxylase deficiency; (2) 3 beta hydroxysteroid dehydrogenase deficiency May cause ambiguous genitalia with masculinized females May present at birth or later in childhood May result in adrenal crisis  sodium loss due to lack of aldosterone production Milder presentation: premature closure of premature secondary sexual characteristics (male); further virilization (females) Treatment: cortisol replacement

7. Hymenal anomalies The hymen is initially a solid membrane of tissue, and the central cells of the membrane typically dissolve during late fetal development to establish a connection between the lumen of the vaginal canal and the vestibule. If this perforation does not take place, the hymen is imperforate The incidence of an imperforate hymen: 1 in 1000 live-born females Occasionally, a hydrocolpos or mucocolpos may occur in neonates or infants may experience cyclic cramping but no menstrual flow.

8. Hymenal anomalies commonly diagnosed after puberty primary amenorrhea hematocolpos Hematometra pelvic pain urinary retention difficulty with bowel movements Diagnosis: history and physical examination a bulging membrane with a bluish hue is appreciated at the introitus vaginal mass is palpable on rectal exam. Treatment: Surgical intervention to relieve the obstruction

9. Mullerian anomalies otherwise known as congenital anomalies of the female reproductive tract occur due to defects in development of the müllerian ducts, which are the embryologic origin of the fallopian tubes, uterus, cervix, and a portion of the vagina

10. embryology Between the third and fifth weeks of embryologic development, both the wolffian (mesonephric) and müllerian (paramesonephric) ducts are present The müllerian ducts form from clefts between the mesonephros and the developing gonad. The paired wolffian ducts connect the embryologic kidney (mesonephros) to the cloaca between 5 and 10 weeks of gestation; development of the functional kidney (metanephros) is stimulated by an outgrowth of the wolffian duct, the ureteric bud. The fate of these various embryonic elements is closely entwined; an insult to or abnormal development of one embryonic element usually affects the others.

11. subsequent steps of development: elongation, fusion, canalization, and septal resorption elongate caudally and eventually fuse in the midline as they descend into the pelvis, reaching the urogenital sinus at an elevation known as the müllerian tubercle There aretwo solid tubes of tissue that are fused medially; this occurs by 10 weeks of gestation central absorption of the cells occurs, leading to two hollow tubes of tissue that remain fused medially midline septum between the two tubes of tissue undergoes resorption, and this process commonly occurs in a caudal to cephalad direction, leading to a midline unified structure The inferior portion becomes the upper vagina , followed by the cervix and uterus cephalad unfused portion of the ducts develops into the fallopian tubes

12. Vagina develops from both müllerian duct tissue and the urogenital sinus Once the urogenital sinus is reached at approximately 10 weeks of gestation, cells proliferate from the upper portion of the urogenital sinus to form solid aggregates known as the sinovaginal bulbs These cell masses develop into a cord, the vaginal plate, which extends from the müllerian ducts to the urogenital sinus. This plate canalizes, starting at the hymen, which is where the sinovaginal bulb attaches to the urogenital sinus, and proceeding cranially to the developing cervix, which has by this time already canalized completed by 20 weeks of gestation

13. Anomalies of Mullerian duct development commonly classified into three categories: agenesis and hypoplasia occur for a portion of or an entire müllerian duct, or for both ducts lateral fusion defects Most common originate due to failure of migration of one or both ducts, midline fusion of the ducts, or absorption of the midline septum between the ducts vertical fusion defects occur due to disordered fusion of the müllerian ducts with the urogenital sinus or abnormal vaginal canalization may present with menstrual flow obstruction

14. Vaginal agenesis also known as müllerian agenesis or müllerian aplasia or Mayer-Rokitansky- KüsterHauser (MRKH) syndrome occurs due to failure of müllerian duct development or marked aberrations in the typical steps of müllerian development characterized by congenital absence of the vagina and variable development of the uterus Incidenced : approximately 1 in 5000 females. have normal pubertal development, normal ovarian function, and a 46,XX karyotype commonly present with primary amenorrhea at 15 to 16 years of age Physical exam absence of a vaginal opening or presence of a short vaginal pouch or inability to palpate uterus on rectal exam etiology unknown

15. Vaginal agenesis Complete vaginal agenesis (75%) short vaginal pouch (25%) may have rudimentary uterine horns and can have myomas or adenomyosis in the rudimentary myometrium If the uterine horns contain some endometrium with an epithelial lining, called functional rudimentary horns Can have concurrent GUT anomalies renal agenesis, pelvic kidney, multicystic dysplastic kidney, and ureteral duplication Can have cardiac defects & hearing loss

16. Vaginal agenesis MRI can confirm diagnosis Surgical intervention with laparoscopy isn’t necessary Treatment: creation of a neovagina for future sexual function Non-surgical: Use of vaginal dilators Surgical: to develop the potential space between the bladder and the rectum and insert into this space a new tissue that will develop into a vagin Inform patient that achieving motherhood is possible using her own eggs and a gestational carrier, or through adoption

17. Transverse vaginal septum Occurs due partial canalization of the vaginal plate, leaving a band of tissue across the vagina partial (perforate) or complete most commonly lies at the junction between the upper third and lower two thirds of the vagina presents with primary amenorrhea and reports cyclic cramping and worsening pelvic pain May lead to hematocolpos and hematometrium Often less than 1 cm thick Treatment: excision

18. Vaginal adenosis Junction between Mullerian ducts & sinovaginal bulb may not be sharply demonstrated If mullerian elements invade sinovaginal bulb; remanants may remain as areas of adenosis Palpated submucosally

19. Abnormalities of the cervix

20. Can occur along with uterine & vaginal anomaly Can occur in isolation Cervical duplication/ agenesis can occur if Occurs if one/ both of the Mullerian ducts don’t fuse, don’t develop or develop incompletely Can result in 2 separate & distinct cervices or 2 fused in the midline Often present with obstructed menstrual flow with associated cyclic/ chronic pain and hematometra Septate uterus can occur when midline septum within cervix doesn’t resorb Don’t typically obstruct menstrual flow

21. Abnormalities of the uterus

22. Categorized as lateral fusion defects Occurs due to disordered duct fusion & septal resorption

23. Classification

24. imaging MRI – gold standard of diagnosis 3D ultrasound - beneficial & equivalent in certain circumstances 2D ultrasound - unable to determine uterine external contour

25. Signs & symptoms Usually ASYMPTOMATIC Uterine agenesis  Primary amenorrhea Obstructive anomaly Pelvic pain (cyclic/ non cyclic) & dysmenorrhea Hematometra Retrograde menstruation endometriosis Septate uterus Abnormal bleeding

26. Signs & symptoms Endometriosis- common in Mullerian anomalies Abnormal bleeding- uterine anomalies, associated with septate uteri Longitudinal vaginal septum- associated with septate, didelphys & bicornuate uteri Difficult tampon insertion Bleeding around one tampon dyspareunia

27. Signs & symptoms Higher rate of obstetric outcomes Recurrent pregnancy loss 1 st & 2 nd trimester pregnancy loss Intrauterine growth restriction Preterm labor & delivery Placental abruption Malpresentation (greater risk of CS) Intrauterine fetal demise

28. Signs & symptoms Uterine dysfunction is thought to occur due to Diminished cavity size Impaired ability to distend Abnormal myometrial and cervical function Inadequate vascularity Abnormal endometrial development Cervical incompetence, pregnancy induced hypertension, antepartum & postpartum bleeding ** Uterine horn pregnancies  surgical emergency (89% rate of rupture)

29. Diagnosis History Physical examination Confirmed with pelvic imaging MRI- assess more complex Mullerian anomalies & simultaneously assess GUT Evaluation of GUT is indicated to identify and concomitant abnormalities ** most common anomaly  arcuate uterus/ septate uterus

30. Management Surgical Intervention - indicated for those with obstructive anomalies with associated pelvic pain, endometriosis & poor obstetric outcomes GOAL: Restoration of pelvic anatomy Preservation of fertility Treatment of pelvic pain & endometriosis Rule out extrauterine causes of obstetric issues

31. Management Septate uterus – amenable to surgery Unicornuate uterus- never considered operable Excision of functional rudimentary uterine horn & attached fallopian tube is recommended To prevent horn/ tubal gestation To treat hematometra & pelvic pain Bicornuate & didelphys uteri- operable in select circumstances Abdominal metroplasty Cervical cerclage

32. Management Hysteroscopic metroplasty To correct partial/ complete septate uterus Improve reproductive outcomes Indicated in women with RPL or 2 nd trimester loss Live birth rates improve from 50 to 80% Miscarriage rates decrease from 45 to 15% Preferred surgical treatment Laparoscopy To assess the fundal contour and guide extent of septum resection Not mandatory

33. Abnormalities of the ovaries

34. Accesory Ovary Excess ovarian tissue noted near a normally placed ovary & connected to it 1 in 93000 Supernumerary Ovary A third ovary is separated from a normally situated ovary 1 in 29000

35. May be found in the omentum or retroperitoneum Additional congenital defects noted, most frequently GUT abnormalities

36. References Comprehensive Gynecology 7 th edition by Lobo, Gershenson et. Al.