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Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences.
Jack Lin1, Teck K Khoo2, Erin R Voelschow1
1Internal Medicine Residency, MercyOne Des Moines, Des Moines, IA, USA.
This case highlights the severe complications of untreated classic 21 hydroxylase deficiency congenital adrenal hyperplasia (CAH) in a transgender individual, including pulmonary embolisms and adrenal masses. It underscores the importance of consistent hormonal replacement therapy for managing CAH.
Area of Science:
- Endocrinology
- Genetics
- Internal Medicine
Background:
- Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase (21OH) deficiency is a genetic disorder affecting hormone production.
- Untreated classic CAH can lead to significant long-term health complications.
- Gender dysphoria is a recognized comorbidity in individuals with CAH.
Purpose of the Study:
- To present a case of untreated classic 21OH deficiency CAH in a transgender patient.
- To describe the resulting pulmonary embolisms (PEs) and bilateral adrenal masses.
- To discuss the implications for managing CAH in transgender individuals.
Main Methods:
- Case report of a 36-year-old male (birth sex: female) with a history of untreated classic 21OH CAH.
- Evaluation included hormonal assays (17-hydroxyprogesterone, cortisol, ACTH, testosterone) and imaging (CT abdomen/pelvis).
- Clinical presentation involved bilateral PEs and adrenal masses.
Main Results:
- The patient presented with bilateral PEs and was diagnosed with bilateral adrenal myelolipomas.
- Hormonal evaluation showed elevated 17-hydroxyprogesterone, low cortisol, elevated ACTH, and male-level testosterone.
- The patient declined further hormonal treatment despite medical recommendations.
Conclusions:
- Untreated classic CAH can lead to adrenal enlargement, androgen overproduction, and potentially PEs.
- Adrenal masses (myelolipomas) can develop as a consequence of untreated CAH.
- Management requires careful consideration of hormonal replacement and potential complications in transgender patients.
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