Ambiguous Genitalia 2023-2024 (University of Baghdad)

University of Baghdad College of Medicine 2023-2024 Title: Ambiguous Genitalia Grade: Fourth Grade Module: Surgery Module Speaker: Dr. Firas Sabah Al-Ali M.B.Ch.B, F.I.C.M.S (URO.), C.A.B.M.S (URO.) Date: 19-2-2024 University of Baghdad/ College of Medicine 2022-2023 Learning Objectives  To define...

University of Baghdad College of Medicine 2023-2024 Title: Ambiguous Genitalia Grade: Fourth Grade Module: Surgery Module Speaker: Dr. Firas Sabah Al-Ali M.B.Ch.B, F.I.C.M.S (URO.), C.A.B.M.S (URO.) Date: 19-2-2024 University of Baghdad/ College of Medicine 2022-2023 Learning Objectives  To define the ambiguous genitalia.  To know some points on the embryological development of the human genitalia.  To classify intersexuality.  To outline the management of patients with DSD. 3 University of Baghdad/ College of Medicine 2022-2023 Ambiguous Genitalia  A birth defect of the sex organs.  One in every 4,500 births.  A mixture of both female and male parts.  The causes include genetic variations, hormonal imbalances and malformations of the fetal tissues that are supposed to evolve into genitals. University of Baghdad/ College of Medicine 2022-2023 Intersex In History  Sumerian – Nibru 4000 B.C.  According to the UN Office of the High Commissioner for Human Rights, "do not fit typical binary notions of male or female bodies".  Historically termed hermaphrodites, eunuchs",or even "congenital congenitally "frigid".  Such terms have fallen out of favor University of Baghdad/ College of Medicine 2022-2023 Sexual Differentiation  Determination  The of genetic sex (XX or XY) Y development of the testes requires the presence of SRY gene University of Baghdad/ College of Medicine 2022-2023 Sexual Determination During Embryo Development Tasts SRY 29 University of Baghdad/ College of Medicine 2022-2023 Embryo cont. University of Baghdad/ College of Medicine 2022-2023 Classification Of Intersexuality 1. Virilization of genitically female foetus DSD (XX-MALE) 2. Incomplete musculinization of genitically male foetus DSD (XY-FEMALE) 3. The presence of both ovarian and testicular tissue in the same individual True hermaphrodites (ovotesticular syndome) 4. Chromosomal abnormality Mixed gonadal dysgenesis ( 45,X0 / 46,XY) University of Baghdad/ College of Medicine 2022-2023 Female Pseudohemaphroditism (XX-MALE) 45 swains   Most common DSD J A a Ovaries & mullerian derivatives are normal MICS  Sexual ambiguity is limited to masculinization of the external genitalia  CAH accounts for the majority of 46XX DSD patients  Inactivating or loss of function mutations in genes : CYP21 & CYP11B1  Affected male have no genital abnormalities University of Baghdad/ College of Medicine 2022-2023 University of Baghdad/ College of Medicine 2022-2023 CAH cont. University of Baghdad/ College of Medicine 2022-2023 Male Pseudohermaphroditism (XY-FEMALE) i. Testicular unresponsiveness to hCG & LH ii. Enzyme defects in testosterone biosynthesis iii. Defects in androgen dependent target tissues iv. A defect in the enzymatic conversion of testosterone to dihydrotestosterone University of Baghdad/ College of Medicine 2022-2023 Cont. v. Defects in the synthesis, secretion, response to AMH or MIS vi. Aberrations in testicular gonadogenesis vii. Primary testicular failure viii. Exogenous insult or University of Baghdad/ College of Medicine 2022-2023 Leydig Cell Aplasia University of Baghdad/ College of Medicine 2022-2023 University of Baghdad/ College of Medicine 2022-2023 Enzyme Defects In Testosterone Biosynthesis University of Baghdad/ College of Medicine 2022-2023 Defects In Androgen Dependent Target Tissues (AIS) University of Baghdad/ College of Medicine 2022-2023 AIS cont. University of Baghdad/ College of Medicine 2022-2023 CAIS University of Baghdad/ College of Medicine 2022-2023 Defect In The Enzymatic Conversion University of Baghdad/ College of Medicine 2022-2023 Persistent Mullerian Duct Syndrome  Rare  AR  Lack of MIS or AMH action  Resulting in the presence of mullerian structures in a normally masculinized XY male  PMDS is due to either a mutation in the AMH gene or a defect in the AMH type II receptor University of Baghdad/ College of Medicine 2022-2023 PMDS University of Baghdad/ College of Medicine 2022-2023 Aberrations In Testicular Gonadogenesis University of Baghdad/ College of Medicine 2022-2023 True Hermaphrodites  Ovotesticular DSD  Presence of both ovarian & testicular tissue  Classified into three groups : Lateral, Bilateral, and Unilateral  Ambiguous genitalia  Result from sex chromosome mosaicism  46XX is the most common karyotype University of Baghdad/ College of Medicine 2022-2023 Patient Evaluation  Karyotype  Serum electrolytes  17OH-progesterone  T, LH, and FSH levels  Ultrasound 46XX DSD University of Baghdad/ College of Medicine 2022-2023 46XY DSD University of Baghdad/ College of Medicine 2022-2023 Treatment Options University of Baghdad/ College of Medicine 2022-2023 University of Baghdad/ College of Medicine 2022-2023 PSYCHOLOGICAL SUPPORT FOR THE PARENTS  Show the baby to the parents  Counsel both parents together What to tell the parents?  The baby is healthy but the external genitalia is incompletely developed & tests are necessary to determine the sex  There are other babies with similar condition  A No. of treatable conditions can result in atypical genitalia University of Baghdad/ College of Medicine 2022-2023 Treatment Options  Assign the baby definite gender : Parental counselling.  Surgery - for example, an overly large clitoris may be trimmed or a fused vulva separated or undescended testicles relocated into the scrotum.  Counselling for the child.  Hormone therapy. University of Baghdad/ College of Medicine 2022-2023 DSD Is Not The End Of Life  Sarah Gronert (July 1986)  Intersex  Surgery at the age of 19  Legally considered to be a women  Retired tennis player  Won a total of ten titles on the ITF circuit in her career University of Baghdad/ College of Medicine 2022-2023 Summary  Ambiguous genitalia is a birth defect of the sex organs that makes it unclear whether an affected newborn is a girl or boy.  Causes include : genetic variations, hormonal imbalances & malformations of the fetal tissues that would have otherwise evolved into genitals.  Treatment aims at assigning the baby a specific gender.  Treatment options include corrective surgery, hormone therapy, peer support & counselling.