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Endocrine Abstracts (2022) 82 WB2 | DOI: 10.1530/endoabs.82.WB2

Manchester Royal Infirmary, Manchester, United Kingdom

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can have multiple effects on growth, sexual development, fertility and overall health. Sub-optimal adherence to treatment regimens during adolescence and puberty can have lifelong consequences. We present the case of 20-year-old male who was diagnosed at birth. His parents are first cousins, and his two siblings also have CAH. Initial treatment comprised hydrocortisone and fludrocortisone and administration was by his parents. Growth was normal until age 10 when his height was noted to have augmented along with increased skin pigmentation. Biochemical evaluation showed elevated 17-hydroxyprogesterone >100 nmol/l (0-6) despite adequate doses by body weight. Poor compliance was suggested as a possible cause. Prednisolone was suggested to improve compliance. Despite this, bone age was that of a 19-year-old when he was chronologically 16 and growth ceased at 153 cm. Within a year of growth completion, he developed bilateral testicular adrenal rest tumors (TART). Care was further complicated by the development of type 1 diabetes age 18. On recent assessment he acknowledges poor compliance but has recently restarted taking prednisolone as he is motivated to improve his overall health, including diabetes control. Biochemistry reflects recent adherence (17-OHP 27.9 nmol/l) but long-term sequelae of sub-optimal control during adolescence remain. He has developed hypogonadotropic hypogonadism secondary to excess adrenal androgens (LH 0.5, FSH <0.3, Testosterone 1.1 nmol/l). Recent ultrasound shows increased TART size, and he has been counselled on the effects this may have on future fertility.

Conclusion: Compliance with medications in CAH is one of the most important factors in management. During adolescence it is often difficult to comprehend the lifelong consequences of certain actions. Poor compliance can lead to delayed puberty, short stature, hypertension, low testosterone and development of Testicular Adrenal rest tumor (TART). There are many ways to improve compliance including optimising medication regimes, motivational interviewing, education, shared decision making. Recognizing signs of poor adherence prior to the development of complications is key and requires careful history taking and biochemical evaluation. We use this case to highlight some of the pitfalls and potential solutions.

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