Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2019) 63 EP12 | DOI: 10.1530/endoabs.63.EP12

ECE2019 ePoster Presentations Adrenal and Neuroendocrine Tumours (23 abstracts)

Lost to follow-up in classic congenital adrenal hyperplasia: a case report

Cristiana Gomes da Costa 1 , Tânia Matos 1 & Sónia do Vale 1,

1Endocrinology Department, Santa Maria Hospital, North Lisbon Hospital Center, Lisbon, Portugal; 2Endocrinology Department, Lisbon Medical School, Lisbon, Portugal.

Introduction: Classic congenital adrenal hyperplasias (CAH) are mostly diagnosed in the first months/years of life and require a lifetime follow-up.

Case report: A 33-year-old Caucasian man was admitted twice in the previous year to the emergency department; the first episode due to an acute tonsillitis, the second episode due to a lower respiratory tract infection, both associated with hyponatremia (125 mmol/l). Common causes of hyponatremia were excluded. He was then observed at the endocrine outpatient department. He mentioned an admission at the hospital at the age of 1 after which he initiated corticotherapy, suspended at the age of 10 (lost to follow-up). There is a history of conjugal infertility. Physical examination revealed marked cutaneous pigmentation and low height (−2 S.D.). Baseline endocrine evaluation revealed a morning cortisol of 2 μg/dl with an ACTH of 2643 pg/ml, elevated testosterone 1030 ng/dl (RR 240–830) with suppressed FSH and LH, elevated progesterone 4.63 ng/ml (RR 0.20–1.4), estradiol (E2) 65.2 pg/ml (RR 16–60), 17-OHP 88.40 g/ml (RR<2.2 ng/ml), 11-deoxycortisol 19.11 ng/ml (RR<7.2), Δ4-androstenedione>10 ng/ml (RR 0.6–3.7) and PRL 98.4 ng/ml RR (4–15), normal aldosterone 3.7 ng/dl (RR 1.76–23.3) with elevated renin 728 μUI/ml (RR 4.4–46), S-DHEA 315.8 μg/dl(RR 65–334), TSH 3.15 (RR 0.30–4.20) with normal total T4 and fT4, but elevated total T3 2.31 ng/ml (RR 0.83–2.0) and fT3 5.00 pg/ml (RR 2.0–4.4). Adrenal CT scan showed bilateral adrenal hyperplasia. Testicular ultrasound revealed normal sized testicles presenting bilateral masses on both testes suggestive of nodular hyperplasia of adrenal rest tissues. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency with adrenal insufficiency was admitted and he initiated therapy with hydrocortisone and fludrocortisone. Endocrine evaluation two months after initiation of therapy revealed a marked reduction of ACTH, progesterone, 17-OHP, 11-deoxycortisol, Δ4-androstenedione and renin. Additionally,testosterone, E2, PRL and thyroid function became normal. Nonetheless he initially referred being asymptomatic, he recognises an enormous improvement in his QoL upon treatment. The genetic study is ongoing.

Discussion: Despite therapy absence from the 10th until the 33rd year of age the patient did not have any major intercurrences. The hyponatremia, that was present in both admissions at the emergency department, is explained by the patient’s adrenal insufficiency. The elevated testosterone with suppressed LH and FSH is possibly conditioning the conjugal infertility. As described in literature, this case also suggests that E2 stimulates basal and TRH-elicited both TSH and PRL.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.