Abnormal sexual development

Abnormal sexual development

Sexual differentiation
Genetic sex
Gonadal sex
Phenotypic sex
Brain sex

male differentiation

Female differentiation

Abnormal development

Anomalies due to genetic factors ( Intersex )
Anomalies of external genital organs (Ambiguous genitalia).
Anomalies of internal genital organs (Mullerian anomalies).

Classification of intersexuality

Virilization of genitically female fetus
Incomplete musculinization of genitically male fetus
True hermaphroditism
Mixed gonadal dysgenesis


Incidence
1 in 2000 children born will be affected by an intersex condition.
98% due to CAH.

Congenital Adrenal Hyperplasia

(CAH)

Epidemiology

Classic CAH has a prevalence of 1/16000 population.
Age
At birth
After puberty

Clinical presentation in new born female

Enlargement of clitoris
Excessive fusion of genital fold
Thickining & rugosity of labia majora
Internal genital organs are present
Dangerous salt losing syndrome.

Investigation

Karyotype
17a hydroxyprogesterone
Electrolyte abnormality
Pelvic US


Treatment of CAH
Medical control of underlying disorder
.....Cortisol
.....correction of electrolyte disorder

Surgical correction of underlying anatomical abnormality

.....Reduction of clitoris
....Clitoroplasty
....Division of the fused labia

XY female (46XY)

Female phenotype
Primary amenorrhoea
breast development
Scanty or absent pubic & axillary hair.
Absent uterus &tube.
Undesended testes

Diagnosis..

......Karyotype


Treatment..
....HRT
....Surgery is seldom required
....Gonadectomy.

Swyer's syndrom

Diagnosis of XY Female

True hermaphroditism

Presence of both ovarian tissue & testicular tissue in one personKaryotype
.....46XX, XY, XX/XY
Diagnosis
......Biobsy

Turner's Syndrome

Karyotype 45XO
Phenotype female
Oedema of hand & feet
Short stature
Absent secondary sexual characteristics
Wide carrying angle of the arms
Webbed neck
Broad chest with widly spaced nipples
Streak ovaries
Normal internal genital organs


Turner's syndrome
Diagnosis
Karyotype
Marked elevation of LH,FSH
Reduced Estrogen
US....Cystic hygroma.

Turner's syndrome

Treatment
Induction of puberty by estrogen.
Induction of menstruation by progesteron.
Growth hormone
Up to one third may have functioning ovaries

Klinefelter syndrome

Karyotype 47XXY
Phenotype..male
Small azospermic testis
Abnormal secondary sexual characteristics
Gynecomastia


Klinefelter syndrome
Treatment
Androgen
Reduction mamoplasty

Clinical presentation of intersexuality

At birth.....Ambiguous genitslia
During childhood.....Heterosexual features
At adolescence....Delayed or heterosexual puberty.

.Ambiguous genitalia at birth

General guideline
......general & social emergency
......avoid immediate declaration of sex
......proper counselling of the parents
......team management

.Ambiguous genitalia at birth

History
Examination
Investigation
......role out CAH
......karyorype.
......pelvic US, MRI.
......Skin biobsy
......laproscopy
......Gonadal biopsy
Treatment


At adolescence
History
.....primary amenorrhoea
.....ambiguous genitalia as in neglected CAH
Examination
Investigation
Treatment
.....cortisol replasement
.....corrective surgery in CAH
......choose the gender depending on gonads state.
.....medical team of gynecologest, plastic surgeons, urologists & psychiatrists

Anomalies of internal genital organs

(Mullerian Anomalies)
Pathogenesis
Agenesis
Hypoplasia
Atresia
Complete seperation development

Uterine anomalies

Clinical manifestation
Asymptomatic
Dysmenorrhoea
Dyspareunia
Pelvic pain
Infertility
Recurrent miscarriage
Malpresentation
Preterm labour
Rarely ectopic pregnancy

Uterine anomalies

Diagnosis
Treatment

Vaginal anomalies

Absent vagina
Vaginal atresia

Imperforated hymen

Vaginal septum

Fallopian tube anomalies

Gonadal anomalies
Crevical anomalies

Absent vagina