Ambiguous Genitalia

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What is Ambiguous Genitalia?

Ambiguous Genitalia refers to a condition present at birth where the external genitals are not clearly male or female. It may result from hormonal, genetic, or developmental differences affecting sexual anatomy. The condition is also known as a Disorder of Sex Development (DSD).

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Possible Causes

  • Congenital Adrenal Hyperplasia (CAH) – most common cause

  • Androgen Insensitivity Syndrome

  • Chromosomal abnormalities (e.g., XXY, XO)

  • Mixed gonadal dysgenesis

  • Maternal hormone exposure during pregnancy

  • Enzyme or receptor defects affecting hormone levels

Symptoms and Presentation

  • Enlarged clitoris or small penis

  • Labia that look like a scrotum

  • Undescended testicles

  • Hypospadias with undetectable testes

  • Ambiguous or unclear gender at birth

  • Difficulty in assigning sex based on appearance alone

Diagnosis in Ghaziabad

We use a comprehensive set of tests to determine the underlying cause:

  • Physical examination

  • Ultrasound and MRI of pelvic and abdominal organs

  • Karyotype (chromosome test)

  • Hormonal blood tests

  • Genetic testing

  • Laparoscopy or biopsy (in complex cases)

Treatment and Management

  • Medical management of hormonal imbalances

  • Gender assignment based on test results and family consultation

  • Surgical correction (genitoplasty) if needed and agreed upon

  • Psychological support for the child and family

  • Long-term follow-up to support growth, puberty, and identity

Why Choose Us?

  • Multidisciplinary pediatric endocrinology and surgery team

  • Accurate, respectful diagnosis and gender assessment

  • Advanced imaging, hormonal, and genetic testing

  • Lifelong support for families in Ghaziabad

If your newborn shows signs of Ambiguous Genitalia, timely evaluation and a supportive care plan are essential. Contact us today for expert, sensitive, and child-focused care in Ghaziabad.