Late diagnosis of severe long-standing autoimmune hypothyroidism after the first lockdown for the Covid-19 pandemic: clinical features and follow-up

Main Article Content

Morena Luce Mansueto
Giulia Zagni
Chiara Sartori
Bernardo Antonio Olivares Bermudez
Beatrice Righi
Cecilia Catellani
Carlo Fusco
Andrea Frasoldati
Alessandro De Fanti
Lorenzo Iughetti
Maria Elisabeth Street


autoimmunity, hypothyroidism, autoimmune thyroiditis, muscular pseudohypertrophy, Kocher-Debre-Semelaigne syndrome, polycystic ovarian morphology


Background and aim: Hashimoto’s thyroiditis (HT) is a common endocrinopathy in children, particularly in females. Clinical overt presentation of hypothyroidism in HT includes mild to very severe forms, characterised by impairment of many body functions and organs, such as heart, brain, muscles, ovaries and liver.

Case: we report the case of a 14-year-old girl, with severe hypothyroidism due to a late diagnosis of HT during the Covid-19 pandemic. Routine biochemical and hormonal exams were carried out at presentation. Moderate pericardial effusion was detected by echocardiography and polycystic ovarian morphology (PCOM) was found on the pelvic ultrasound. Furthermore, high levels of creatine phosphokinase (CPK), Lactic Acid Dehydrogenase (LDH) and hepatic liver enzymes, associated with muscular pseudohypertrophy and bilateral weakness of the lower limbs, were suggestive of a rare presentation of long-standing hypothyroidism defined Kocher-Debre-Semelaigne syndrome (KDSS). Levothyroxine replacement therapy was started immediately, leading to a rapid improvement of symptoms and a progressive normalization of the biochemical parameters. Due to persistent lower limb weakness, further neurological investigations were performed, showing bilateral peripheral polyneuropathy (PNP), ascribable to the longstanding and severe hypothyroidism. A pelvic ultrasound, performed after thyroid hormones had normalised and menses had turned to be regular, showed normal ovarian features supporting the hypothesis of the Van Wyk and Grumbach syndrome in a post-menarcheal girl.

Conclusions: although clinical manifestation of hypothyroidism are usually mild, more severe and rare presentations such as ovarian dysfunction and myopathy are possible, particularly if the diagnosis is delayed and replacement therapy is not promptly administered.


Download data is not yet available.
Abstract 736 | PDF Downloads 334


1. Kyritsi EM, Kanaka-Gantenbein C. Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence. Front Endocrinol (Lausanne). 2020; 11:543.
2. Crisafulli G, Gallizzi R, Aversa T et al. Thyroid function test evolution in children with Hashimoto's thyroiditis is closely conditioned by the biochemical picture at diagnosis. Italian Journal of Pediatrics. 2018; 44: 22.
3. Leung AKC, Leung AAC. Evaluation and management of the child with hypothyroidism. World J Pediatr. 2019; 15:124-34.
4. Demirbilek H, Kandemir N, Gonc EN, Ozon A, Alikasifoglu A, Yordam N. Hashimoto’s thyroiditis in children and adolescents: a retrospective study on clinical, epidemiological and laboratory properties of the disease. J Clin Endocrinol Metab. 2007; 20: 1199–205.
5. Yeshayahu Y, Frizinsky S, Somech R, Dubnov-Raz G. Severe Prolonged Hypothyroidism. Global Pediatric Health. 2015; 2: 1–5
6. Shaw C, Shaw P. Kocher-Debre-Semelaigne Syndrome: Hypothyroid Muscular Pseudohypertrophy-A Rare Report of Two Cases. Case Reports in Endocrinology. 2012; 2012: 1-3.
7. Singla R, Gupta Y, Khemani M, Aggarwal S. Thyroid disorders and polycystic ovary syndrome: An emerging relationship. Indian Journal of Endocrinology and Metabolism. 2015; 19: 25-9
8. Pan YW, Tsai MC, Yang YJ, Chen MY, Chen SY, Chou YY. The relationship between nonalcoholic fatty liver disease and pediatric congenital hypothyroidism patients. 2019; 35: 778-86.
9. Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia. 1985; 28: 412-19.
10. Dighe M, Barr R, Bojunga J et al. Thyroid Ultrasound: State of the Art Part 1-Thyroid Ultrasound reporting and Diffuse Thyroid Diseases. Med Ultrason. 2017; 19:79-93.
11. Leonardi A, Penta L, Cofini M, Lanciotti L, Principi N, Esposito S. Pericardial Effusion as a Presenting Symptom of Hashimoto Thyroiditis: A Case Report. Int. J. Environ. Res. Public Health. 2017; 14: 1576.
12. Martinez-Soto T, Deal C, Stephure D et al. Pericardial effusion in severe hypothyroidism in children. J Pediatr Endocrinol Metab. 2010 Nov; 23 :1165-68.
13. Chung GE, Kim D, Kim W et al. Non-alcoholic fatty liver disease across the spectrum of hypothyroidism. Journal of Hepatology. 2012; 57: 150-6.
14. Pacifico L, Bonci E, Ferraro F, Andreoli G, Bascetta S, Chiesa C. Hepatic steatosis and thyroid function tests in overweight and obese children. International Journal of Endocrinology. 2013; 2013.
15. Moria Y, Kortbawi R, El-Asmar N, Arafah BM. Increased androgen secretion in patients with prolactinomas: the impact of altered HPA function. Pituitary. 2019;22: 170-78.
16. Muderris I, Boztosun A, Oner G, Bayram F. Effect of thyroid hormone replacement therapy on ovarian volume and androgen hormones in patients with untreated primary hypothyroidism. Ann Saudi Med. 2011; 31:145-51.
17. Oden Akman A, Tayfun M, Demirel F, Ucakturk SA Gungor A. Association of Van Wyk Grumbach and Debre Semelaigne Syndromes with Severe Hypothyroidism. Journal of Pediatric and Adolescent Gynecology. 2015; 28: e161-e163
18. Zhang C, Lei T, Cao J, Huang H, Chen F, Ma C. Primary hypothyroidism in a child leads to pituitary hyperplasia, Medicine. 2018; 97: e12703.
19. Ganie MA, Marwaha RK, Aggarwal R, Singh S. High prevalence of polycystic ovary syndrome characteristics in girls with euthyroid chronic lymphocytic thyroiditis: a case-control study. Eur J Endocrinol. 2010; 162:1117-122
20. Cimbek EA, Sen Y, Yuca SA, Cąm D, Gür C, Peru H. Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine. Journal of Pediatric Endocrinology and Metabolism. 2015; 28: 1383-385.
21. Affifi AK, Najjar SS, Mire-Salman J, Bergman RA. The myopathy of the Kocher-Debre-Semelaigne syndrome: electromyography, light- and electron-microscopic study. Journal of the Neurological Sciences. 1974; 22: 445–70.
22. Azhary H, Farooq MU, Bhanushali M, Majid A, Kassab MY. Peripheral neuropathy: Differential diagnosis and management. American Family Physician. 2010; 81: 887-92.

Most read articles by the same author(s)

1 2 > >>