Dr Khaldoun Khamaiseh FRCOG MRCP Consultant Obstetrician amp Gynecologist This refers to difficulty in in defining the sex of the individual Chromosomal Gonadal Hormonal psychological ID: 908620
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Abnormal sexual development
Dr Khaldoun Khamaiseh FRCOG MRCPConsultant Obstetrician & Gynecologist
Slide2This refers to difficulty in in defining the sex of the individual
ChromosomalGonadalHormonalpsychologicalIntersex
Slide3Ambigous genitalia
Defective growth :Turner syndromeAmenorrhoeaDifficulty with sexual intercourseInfertilityPresentation of intersex
Slide4Slide5The primitive gonad is a thickening of the coelomic epithelium anterior to the
mesonephrosThe germ cells migrate to it from the yolk sacIf Y chromosome (Testis determining factor) is present a testis will developIf no Y chromosome an ovary will developXX, XY, XXY, XXXY, XYYEmbryology
Slide6In the presence of testes: It secretes Anti mullerian hormone(AMH) this causes regression of
mullerian duct and development of the wolffian duct into the reproductive collecting system of the maleIn the absence of testes the mullerian duct develops into uterus fallopian tubes and upper vagina and the wolffian duct regresses
Embryology
Slide7The testes and ovary will have developed by 10 weeks gestation: primary oocytes can be distinguished at this stage 7 million in no. at 20 weeks gestationAt birth 2 million
At puberty ½ millionEmbryology
Slide8Exposure to androgens defines male external characteristicsDepending on stage of testicular development and androgen exposure
Early lack of exposure to androgens like in testicular feminization syndrome will result in total female phenotype despite XY karyotypeLate lack of exposure of androgens will result in hypospadias only Androgen exposure in fetal life
Slide9Karyotype: XO, XXY, XXX
Gonadal developmentAndrogen virilization of a female fetus: CAH, androgenic drugs Primary sexual development in utero
Slide10Genetic sex vs phenotype
Presence of testes or ovariesPrimary sexual development in uteroSecondary sexual development at pubertyStages of sexual development
Slide11Gonadal dysgenesis
: TurnerAndrogen Insensitivity Syndrome (AIS) (Tesicular feminization syndrome)Klinfelter’s syndrome (XXY)Congenital adrenal Hyperplasia (CAH)
Mullerian
duct abnormality
Conditions with abnormal sexual development
Slide12Slide13Mullerian agenesis
Complete absence of uterus and fallopian tunbes and upper vaginaPrimary amenorrhoea alwaysNormal ovariesPlastic surgery to create neo vagina Uterine transplant
Slide14Slide15Testicular feminization syndrome
Slide16Autosomal recessive21 hydroxylase deficiency in 95% of cases results in low cortisol, then ACTH increased and drives androgen production
Accounts for 5% of women with hirsutismAutosomal recessiveStrong family historyT level above 5 nmol/l
Congenital adrenal hyperplasia
Slide17Slide18Classic 21‐hydroxylase deficiency
commonly presents in infancy. Severely virilised females with ambiguous genitalia. Salt wasting and adrenal crises can occur in some patients and are important causes of neonatal death. Non‐classic 21‐hydroxylase deficiency tends to present in puberty (late onset)
oresents
with
hyperandrogenism
but have preserved cortisol and aldosterone production, so salt wasting and adrenal crises are not common features of this condition.
Many female patients can present in early adulthood with menstrual disturbance or
hirsutism
.
Slide19Klinfelter’s
syndrome
Slide20Tall less muscle massSparse hairSmall testicles
Very high FSHgynecomastia Infertility due to azoospermiaMosaic form may find sperm on biopsyClinical features
Slide21Thank you