Differential Diagnosis
- Single most likely diagnosis
- Hyperandrogenism due to Congenital Adrenal Hyperplasia (CAH) or more specifically 17,20-Desmolase Deficiency is less likely given the normal female karyotype and the presence of normal-appearing primordial follicles, but Androgen Insensitivity Syndrome (AIS) is also unlikely due to the presence of clitoromegaly and the lack of breast development. However, the most likely diagnosis is Hyperthecosis or Hyperandrogenism due to Polycystic Ovary Syndrome (PCOS), but given the undetectable estradiol levels and the presence of clitoromegaly, 17,20-Desmolase Deficiency or Hyperthecosis are less likely. The most likely diagnosis is Androgen Excess due to a rare form of Congenital Adrenal Hyperplasia or Hyperthecosis, but given the normal karyotype and the presence of normal-appearing primordial follicles, Hyperthecosis is more likely.
- Other Likely diagnoses
- Polycystic Ovary Syndrome (PCOS): Given the presence of multiple ovarian cysts, high androgen levels, and the lack of menstrual cycles, PCOS is a possible diagnosis, but the undetectable estradiol levels and the presence of clitoromegaly make it less likely.
- Androgen-Producing Tumors: Although rare, androgen-producing tumors of the ovaries or adrenal glands could explain the high androgen levels and the presence of clitoromegaly.
- Do Not Miss
- Adrenal Crisis due to Congenital Adrenal Hyperplasia: Although less likely given the normal electrolyte levels, an adrenal crisis due to CAH could be life-threatening if missed.
- Ovarian Torsion: Given the presence of multiple ovarian cysts, ovarian torsion is a possible diagnosis that should not be missed due to its potential to cause severe pain and infertility if not treated promptly.
- Rare diagnoses
- 17,20-Desmolase Deficiency: A rare form of Congenital Adrenal Hyperplasia that could explain the high androgen levels and the presence of clitoromegaly.
- Denys-Drash Syndrome: A rare syndrome characterized by ambiguous genitalia, Wilms tumor, and nephropathy, which could explain the presence of clitoromegaly and the lack of menstrual cycles.
- Fraser Syndrome: A rare genetic disorder characterized by ambiguous genitalia, craniofacial abnormalities, and other systemic anomalies, which could explain the presence of clitoromegaly and the lack of menstrual cycles.