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The Clinical Septet of Van Wyk–Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India

Van Wyk–Grumbach syndrome is a rare, female juvenile hypothyroidism disorder that is characterized by precocious puberty with clinical, radiological and hormonal pathologies. We present a case series of three patients with this unusual condition who were evaluated and followed up over a 3-year perio...

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Detalles Bibliográficos
Autores principales: Waddankeri, Swaraj, Waddankeri, Meenakshi, Waddankeri, Shrikant, Arora, Kshitij
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Touch Medical Media 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258612/
https://www.ncbi.nlm.nih.gov/pubmed/37313241
http://dx.doi.org/10.17925/EE.2023.19.1.98
Descripción
Sumario:Van Wyk–Grumbach syndrome is a rare, female juvenile hypothyroidism disorder that is characterized by precocious puberty with clinical, radiological and hormonal pathologies. We present a case series of three patients with this unusual condition who were evaluated and followed up over a 3-year period between January 2017 and June 2020. All three patients presented with short stature (<3rd centile), low weight (<3rd centile), absence of goitre, no axillary or pubic hair, delayed bone age by more than 2 years, elevated thyroid-stimulating hormone with low T3 and T4 (primary hypothyroidism), and raised follicle-stimulating hormone with pre-pubertal levels of luteinizing hormone. Abdominal ultrasonography showed bilateral multi-cystic ovaries in two patients and a right-sided bulky ovary in the third patient. One of the patients also had a pituitary ‘macroadenoma’. All the patients were successfully managed with levothyroxine. We discuss the pathophysiological mechanisms with a brief literature review.