Endocrine Abstracts

27-year-old male presented to the outpatient adult Endocrine team with Classical Salt wasting CAH due to 21 -Hydroxylase Deficiency. He has 659 A/C G splice mutation. There was no prior family history of CAH. The diagnosis was made at birth and he was commenced on hydrocortisone and Fludrocortisone. Further confirmatory tests were done at the age of one month. He was regularly followed up in the pediatric endocrine clinic. There have always been issues with compliance. He had a few presentations with adrenal crisis. He attained a height of 170.6 cm and weight of 65 kg. His height was not far off from parental targets. He was athletic and keen from the beginning to do Medicine Degree. He is currently studying medicine. He was referred to our local services at the age of 24 due to relocation. Initially, he was well maintained on 15mg of hydrocortisone in two divided and 150 mg of fludrocortisone. He noticed his shaving frequency is every 3 days and reduced hair growth all over his body. He has not noticed any lumps in the testicles. He has normal libido and denied any erectile dysfunction. Examination revealed normal testis bilaterally with normal secondary sexual development. We performed: cortisol and 17 hydroxy-progesterone day curve with zero-hour renin. 0 h renin 5.5 with normal electrolytes and renal profile. We also performed baseline Androstenedione 18.3 nmol/l, Testosterone 7.2 nmol/l and DHEAs 2.0Umol/l. FSH/lH was low. Bone scan and US testis (Surveillance of TARTs) were organized. US testis showed three lesions 0.6, 0.7 and 0.8 cm lesions bilaterally. Patient was advised to delay the evening dose of hydrocortisone to suppress morning peaks of 17-OH progesterone and Androstenedione levels. We also discussed that dose needs to be increased. He admits missing the evening doses and complaints of difficulty sleeping at night if takes steroids too late. He is also concerned increasing the corticosteroid dose gives him cushingoid appearance. The goals of treatment are adequate steroid therapy (mineralocorticoid and corticosteroid) to suppress CRH and ACTH without causing overtreatment. Avoid Salt wasting/Adrenal crisis. Dose titration to prevent suppression of FSH/lH and treatment of TARTs. Regular follow up of TARTs to avoid permanent Infertility and testicular atrophy. Discussions regarding fertility and genetic counselling for future family planning and inheritance. Avoidance of overtreatment of Steroid therapy.