Rare Diseases Symptoms Automatic Extraction

Fertility issues in the management of patients with disorders of sex development.

[aromatase deficiency]

Fertility potential is one of the issues that should be considered by the multidisciplinary team when addressing gender assignment, surgical management, the process of disclosure to patients and their families, and prospective long-term outcomes of individuals with disorders of sex development (DSD). In this article, we review the current evidence of the fertility potential of patients with: (1) dysgenetic DSD, including pure and partial gonadal dysgenesis, asymmetric gonadal differentiation, ovotesticular DSD and 46,XX testicular DSD; (2) 46,XY DSD due to abnormal testicular hormone production or action, including testosterone production deficiencies, dihydrotestosterone deficiency, androgen insensitivity and defects in anti-Müllerian hormone or its receptor, and (3) 46,XX DSD due to excessive androgen exposure in individuals with no testicular tissue, i.e. congenital adrenal hyperplasia and aromatase deficiency.

Diseases presenting "prospective long-term outcomes" symptom

  • aromatase deficiency
  • congenital adrenal hyperplasia

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