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Ambiguous Genitalia (Disorders of Sexual Differentiation) : DR Gwer

The document discusses congenital adrenal hyperplasia and other disorders of sexual differentiation, including their causes, presentations, diagnoses, and treatments. Congenital adrenal hyperplasia is caused by deficiencies in cortisol biosynthesis enzymes which can result in ambiguous genitalia in females. Other disorders that can cause ambiguous genitalia include Turner's syndrome, gonadal dysgenesis, virilizing tumors, and true hermaphroditism. The document provides details on the clinical features, investigations, and management of these conditions.

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Malueth Angui
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61 views18 pages

Ambiguous Genitalia (Disorders of Sexual Differentiation) : DR Gwer

The document discusses congenital adrenal hyperplasia and other disorders of sexual differentiation, including their causes, presentations, diagnoses, and treatments. Congenital adrenal hyperplasia is caused by deficiencies in cortisol biosynthesis enzymes which can result in ambiguous genitalia in females. Other disorders that can cause ambiguous genitalia include Turner's syndrome, gonadal dysgenesis, virilizing tumors, and true hermaphroditism. The document provides details on the clinical features, investigations, and management of these conditions.

Uploaded by

Malueth Angui
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Ambiguous genitalia

(disorders of sexual
differentiation)
Dr Gwer
Congenital adrenal hyperplasia
Introduction

 Congenital adrenal hyperplasia is a family of autosomal recessive disorders of cortisol


biosynthesis.
 Cortisol deficiency results in increased ACTH production which then causes adrenal
hyperplasia
 Depending on the stage of steroid biosynthesis affected there may be signs/symptoms of
mineralocorticoid excess/deficiency , incomplete virilization or premature puberty in
males, and virilization or sexual infantilism in females
Types

 21-hydroxylase deficiency is commonest


 11β-hydroxylase deficiency
 17α-hydroxylase deficiency
 3β-hydroxysteroid dehydrogenase deficiency
 Congenital lipoid adrenal hyperplasia
 P450 –oxidoreductase deficiency
Clinicals

 Presentation depends on the nature and severity of the enzyme deficiency, but often there is
sexual ambiguitý.
 21β-hydroxylase def when severe in females results at birth in clitoral hypertrophy,
labioscrotal fusion while milder forms present in childhood with precocious pubic hair and
clitoromegaly and even milder forms present in adolesence/adulthood with
oligomenorrhea, hirsutism and possible infertility. While males have normal genitalia.
Clinicals

 Females with 17β-hydroxylase present normal genitalia at birth but do not develop breasts
or menstruate at adolescence while males have ambigous or female ext genitalia and may
be raised as females only to be discovered later due to hypertension or failure to develop
breasts.
 In most types in addition to sexual ambiguity the present with varying degrees of
glucocorticoid or mineralocorticoid deficiency
Diagnosis

 It depends in the demonstration of deficiency of cortisol or aldosterone or both with


increase in precursors eg 17-hydroxyprogesterone in 21β-hydroxylase def
 Basal ACTH is raised
 Other lab findings eg hypoglycemia, hyponatremia and hyperkalemia
 Imaging studies to demonstrate enlarged adrenals, gonads and internal genitalia
Diagnosis

 Karyotyping is important in ambiguous genitalia for chromosomal sex.


 Genetic studies for prenatal diagnosis
 Bone age studies for skeletal maturation.
Treatment

 Treat acute adrenal insufficiency with Iv fluids and correct hypoglycemia


 Long term replacement of glucocorticoids and mineralocorticoids
 Psychotherapy for sex adjustment
 Corrective surgery for ambiguous genitalia eg vaginoplasty
Other Disorders of sexual differentiation
Introduction

 Development of external genitals begin with either potential to be male or female.


 Chromosomal sex: normal female is 46XX and male 46XY. Y chromosome confers male
sex and if not present development follows female lines.
 Gonadal sex: is determined by chromosomal sex but requires normal embryological
development.
Introduction

 Phenotypic sex: normal physical appearance and characteristics of male and female body
shape. Depends on gonads and sex hormone production
 Social sex (Gender): Depends on phenotype and normally assigned on appearance of
external genitalia at birth
 Sexual orientation: heterosexual, homosexual or bisexual. Studies suggest some element
of genetic determination of this.
Disorders
Condition Chromosome gonads Phenotype Remarks

Turner’s syndrome 45X0 streaks Female Short, web


neck, CoA

Gonadal 46XY Streak or Immature


dysgenesis minimal female
testes

CAH Discussed
earlier
Virilizing tumor 46XX Ovary Female with Androgen
variable excess
virilization
True 46XX/XY or Testis and Male or
hermaphroditism mosiac ovary ambiguous
Disorders
Condition Chromosome Gonads Phenotype Remarks
Klinefelter’s 47XXY Small testes Male, often Many
with hypogonadal
gynaecomastia
Testicular 46XY Testes Ambiguous or Androgen
feminization infantile female receptor defect
Testicular 46XY Testes Cryptorchid/
synthetic ambiguous
defects
5α-reductase 46XY Testes Cryptorchid / Impaired
deficiency ambiguous conversion of
testosterone ti
dihydrotestoste
rone
Anorchia 46XY Absent Immature
female
Work up

 Chromosomal studies
 Pelvic imaging to determine presence of uterus and ovaries; include ultrasound, contrast
genitogram
 Laparoscopic studies
 Hormonal studies: adrenal hormones, androgens and estrogens, androgen receptor levels,
 Histology of gonadal biopsy
Treatment

 Initial gender assignation is important soon after birth. Full disclosure and compassionate
guidance of the parents required
 Genitoplasty and other surgical procedures may be done (controversial since the genital
fashioned may turn out not to be patients preferrence)
 Hormone replacement.

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