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Hermaphroditism (Disorders of Sex Development)

Diagnosis, symptoms, and treatment methods.

General Information About Hermaphroditism

Disorders of Sex Development (DSD) are congenital developmental variations where an individual's chromosomal (DNA), gonadal (ovary/testis), or anatomical sex structures do not fully align with typical male or female definitions. These complex genetic and endocrinological presentations are managed with sensitivity according to the patient's individual situation by our councils, which consist of Pediatric Endocrinology, Urology, Genetics, and Child Psychiatry specialists.

Disease Details and Frequently Asked Questions

You can access detailed information about the disease under the headings below.
What are Disorders of Sex Development (DSD)?

Known in older medical terminology as 'hermaphroditism' or 'intersex'; these are conditions where a baby's internal reproductive organs, external genital structure, or sex chromosomes develop outside of classical biological norms.

What Causes It?

It occurs as a result of mutations in sex-determining genes, congenital malfunction of the adrenal glands producing excessive hormones (CAH), or hormonal imbalances the baby is exposed to in the womb.

What Does Chromosome Mismatch Mean?

Normally, a girl has 46,XX chromosomes; a boy has 46,XY. However, in DSD conditions, a person may have a 46,XY (genetic male) chromosome setup, but because their body cannot perceive the hormones, their physical appearance may develop entirely as a girl.

How is it Diagnosed?

It is suspected at birth if the external genital structure has an ambiguous appearance. For a definitive diagnosis, a chromosome analysis (karyotype), detailed hormone tests, and a pelvic ultrasound or MRI to visualize the internal organs are performed.

How is Sex Assignment Made?

This is a very sensitive medical and ethical process. The decision is made by a multidisciplinary team of experts evaluating the individual's chromosomes, internal organ capacity, hormone sensitivity, and future psychosocial development.

How is it Treated?

Hormone replacement therapies are applied according to the patient's medical and psychological needs. When necessary, reconstructive surgeries are performed to correct the genital anatomy or remove undeveloped tissues that carry a cancer risk.

Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.


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