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of Sexual Development
Nusratuddin Abdullah
Department of Obs & Gyn
Hasanuddin University Makassar
Normal Sexual Differentiation
GENDER
IDENTITY • Body gestures and mannerisms, habits of speech,
recreational preferences, and content of dreams
What Determines Gender
Chromosomes /Karyotype ? XY Females and XX Males
Its Sex Determines Gender ?
Females with male bodies ( CAH ) and males with females bodies ( AIS )
Its Genitalia?
People who dont feel that they are their apparent sex ( Transgender / Transexual )
It Is The Brain?
People who considered themselves male or female still have a range of behaviour (
Straight or Gay )
Formation of Organs Common to Both Sexes
Both 46,XX and 46,XY fetuses have similar sex organs, specifically
• Recognized by 4-5 weeks of gestation and
The gonadal they include the undifferentiated germ cells
ridges which will later develop into either eggs or
sperm
XX Female
XO
LED TO Turner femaleOF “TDF”- TESTIS DETERMINING
A CONCEPT
FACTOR ON Y CHROMOSOMES
THE FATE OF BIPOTENTIAL GONAD
Undifferentiated
gonadal ridge
Bipotential gonad
SRY
AMH
Testosterone
Epididymis
Vas deferens AMH
SeminalVesicle Receptor
Uterus
DHT
• 45 XX DSD
• Congenital Adrenal Hyperplasia
• Maternal Hyperandrogen
Too Little Androgen Effect in a Males
• 46, XY DSD
• Congenital Adrenal Hyperplasia
• 5 alfa Reductase Deficiency
• AIS
• LH Deficiency
• Testoterone Biosynthetic defect
Abnormality of AMH
•Persistence of Mullerian structures in a Male
DEFINITION
Disorders of sex development (DSD) are
defined as congenital conditions in which
development of chromosomal, gonadal or
anatomical sex is atypical, and where previously
referred to as intersex conditions
INCIDENCE
46,XY to have a DSD : 1 in 20,000 births
Ovotesticular DSDs : 1 in 100,000 births
Testicular or mixed gonadal dysgenesis 1:10,000
46,XX, to have DSD, 1 in 14,000–15,000 births
All congenital genital anomalies, including cryptorchidism and
hypospadias 1:200 to 1:300
Incidence those with Klinefelter syndrome 1:500 to 1:1000
births and Turner syndrome 1:2,500 live births
Lee A P et al, Global Disorders of Sex Development Update since 2006: Perceptions,
Approach and Care, Horm Res Paediatr DOI: 10.1159/000442975 ,2016
OLD TERMS
Male Female
Pseudohermaprodite Pseudohermaprodite
Texticular Intersex
Feminizations
Nomenclature DSD
AVOID:
• INTERSEX
• SEX REVERSAL
• PSEUDOHERMAPHRODITISM
• UNDERVIRILIZED MALES
XY sex reversal (XY female sex) Complete Gonadal dysgenesis Streak (nonfunctional) gonads as well as mῠllerian
structures are present; external genitalia are female
XX sex reversal (XX male sex), 46, XX testicular DSD Testes are present; internal and external genitalia are
female pseudohermaphoditism male
Male pseudohermaphroditism, 46, XY DSD Male gonadal development is abnormal; androgen
XV male undermasculinization synthesis or action is deficiet; external genitalia are
undermasculinized to a variable degree
Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group. Consensus statement
on management of intersex disorders. Arch Dis Child 2006;91(7):554–563
Disorders of sexual development (New DSD nomencalture)
Sex Chromosome 46, XY DSD 46, XX DSD
DSD
• 45, X Turner and Disorders of Disorders of Androgen Disorders of Fetal Androgen Excess
Testicular syntesis/ Action Ovarian
Variants CAH Non CAH
Development • Androgens synthesis Development
• 47, XXY Klinefelter • Complete Gonadal Defect • Ovotesticlar DSD • 21-OH • Aromatase
and Variants Dysgenesis • LH-Receptor Defect • Testicular DSD Deficiency Deficiency
• 45,X/46XY MGD • Partial Gonadal • Androgen Insentivity (eg. SRY+, dup • 11-OH • POR Gene
Dysgenesis • 5α-Reductase SOX9)
• Chromosomal Deficiency Defect
• Gonadal Deficiency • Gonadal
Ovotesticular DSD • Maternal
Regression • Disorders AMH Dysgenesis
• Ovotesticular DSD • Timing Defect • Luteoma
• Endocrine Disruptures • Iatrogenic
• Cloacal Extrophy
MGD : mixed gonadal dysgenesis, DSD : Disorders of sexual development, AMH : Anti Mῠllerian hormone, CAH :
congenital adrenal hyperplasia
Current diagnosis-based recommendations for sex of rearing in some DSD and
consequent gonadal status
Adapted from “Current Concepts in Disorders of Sexual Development” by G. Öçal, 2011. Journal of Clinical
Research in Pediatric Endocrinology, 3, p.111.
46, XX genotype
Ovotestis 2 Streak
2 tetes 2 Ovaries
gonads