Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report

Author(s):  
Fernando Marin ◽  
Esteban Jodar ◽  
Jaime Sánchez del Pozo

AbstractWe present an unusual case of SHOX deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto’s thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisting. At the age of nine years, the proband was diagnosed of hypothyroidism due to Hashimoto’s thyroiditis, and developed biochemical abnormalities consistent with hyperphosphatemia, mild hypocalcemia and elevated parathyroid hormone without any clinical symptoms except short stature. Replacement therapy with levothyroxine, calcium and alphacalcidol was initiated. The diagnosis of pseudohypoparathyroidism 1B was confirmed at the age of 17.5 years with the demonstration of methylation alteration at the GNAS locus. At the age of 16 years, 3.5 years after her menarche, she presented clear features of LWD. A large deletion of the SHOX gene was confirmed. Family genetic tests were not doable since she was adopted. We discuss the diagnostic challenges of these coexisting rare endocrinopathies.

2020 ◽  
Vol 7 ◽  
Author(s):  
Shahd Mobarak ◽  
Munir Tarazi ◽  
Harry Spiers ◽  
Anjali Santhakumar ◽  
Bence Forgacs

2021 ◽  
Vol 4 (3) ◽  
Author(s):  
Ramesh Mahadev Tambat ◽  
Sreenivas M. D. ◽  
Tejas A. P. ◽  
Nitin Kumar K ◽  
Sadiq Nawaz F ◽  
...  

2020 ◽  
Vol 77 (2) ◽  
pp. 225-228
Author(s):  
Ksenija Bubnjevic ◽  
Dusan Ugarkovic ◽  
Jelena Kovacevic

Introduction. The World Health Organization (WHO) exclusively recommends breastfeeding for the first six months of the newborn life. Many factors affect milk production. Physical exercise can significantly affect prolactin secretion in the blood. Case report. A respondent in this study was a primipara (33 years old) diagnosed with Hashimoto's thyroiditis and a singleton pregnancy. During pregnancy and after the childbirth, she continued with light to moderate physical exercise. During the first six months after the childbirth, the light to moderate intensity aerobic exercise had no negative impact on the blood level of prolactin and growth and development of the child. Conclusion. In this case study, light to moderate intensity aerobic exercise had no negative impact on the level of prolactin in the blood during the first six months after the childbirth in a woman with Hashimoto's thyroiditis.


Author(s):  
Siti Nurul Hapsari ◽  
Sidarti Soehita

Hashimoto thyroiditis (chronic autoimmune thyroiditis) is the most common cause of hypothyroidism in iodine-sufficient areas of the world. This condition, however, can sometimes show hyperthyroidism. A 39-year-old femalewas admitted to hospital due to shortness of breath and tremor four hours before hospitalization. There were nausea, chestpain, cold chills, and palpitation. She was diagnosed with Hashimoto's thyroiditis and routinely received tyrosol,propranolol, and dexamethasone. Physical examination showed cervical mass, afebrile, blood pressure of 130/70 mmHg,pulse rate of 110 beats/minute and respiratory rate of 20 breaths/minute. Laboratory examinations showed WBC 7.53 x 109/L, Hb 11.0 g/dL and platelet count of 168 x 109/L. Chest X-Ray: negative for infiltrates. Several laboratory testswere performed, abnormal results were as follows: FT4 level of 2.96 ng/dL (increased), TSH level of 0.003 µIU/mL(decreased), anti-TPO (antithyroid microsomal antibody) level of 306 IU/ml (increased), and IgE level of 213.6 IU/mL(increased). Peripheral blood smear, coagulation test, serum electrolytes, liver function tests, renal function tests, urinalysis,CEA and Ca 125 were within normal limits. Thyroid ultrasound was performed and showed a benign lesion. Fine needleaspiration biopsy showed lymphocytic Hashimoto's thyroiditis. Echocardiography showed hyperthyroid heart disease. Dueto an increase of anti-TPO and FT4 levels, a decrease of TSH levels and lymphocytic thyroiditis from FNAB, this patient wasdiagnosed with a hyperthyroid phase of Hashimoto's thyroiditis. Thyroid function tests and thyroid antibody tests must bemonitored to distinguish between the hyperthyroid and hypothyroid phase of Hashimoto thyroiditis.


Praxis ◽  
2021 ◽  
Vol 110 (14) ◽  
pp. 812-815
Author(s):  
Dea Degabriel ◽  
Alberto Cerutti ◽  
Laura Caramanica ◽  
Alessandro Viganò ◽  
and Tanja Fusi-Schmidhauser

Abstract. We present the case of a 72-year-old woman who was diagnosed with Hashimoto’s thyroiditis and who developed a low-grade fever, fatigue, and weight loss that prompted to perform a thyroid biopsy to rule out an underlying primary thyroid lymphoma. This case report offers the opportunity to review the association between Hashimoto’s thyroiditis and primary thyroid lymphoma. Furthermore, it underlines the importance of considering the diagnosis of lymphoma when a thyroid mass is found in patients with an underlying Hashimoto’s disease, as the timely management is essential for survival with this rare thyroid condition.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Ewa Cyranska-Chyrek ◽  
Michal Olejarz ◽  
Ewelina Szczepanek-Parulska ◽  
Piotr Stajgis ◽  
Anna Pioch ◽  
...  

Thyroid ◽  
2004 ◽  
Vol 14 (8) ◽  
pp. 631-634 ◽  
Author(s):  
Mario Salvi ◽  
Guia Vannucchi ◽  
Francesco Sbrozzi ◽  
Alessandra Bottari Del Castello ◽  
Alessandra Carnevali ◽  
...  

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