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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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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
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author Waddankeri, Swaraj
Waddankeri, Meenakshi
Waddankeri, Shrikant
Arora, Kshitij
author_facet Waddankeri, Swaraj
Waddankeri, Meenakshi
Waddankeri, Shrikant
Arora, Kshitij
author_sort Waddankeri, Swaraj
collection PubMed
description 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.
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spelling pubmed-102586122023-06-13 The Clinical Septet of Van Wyk–Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India Waddankeri, Swaraj Waddankeri, Meenakshi Waddankeri, Shrikant Arora, Kshitij touchREV Endocrinol Paediatric Endocrinology 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. Touch Medical Media 2023-05 2023-02-06 /pmc/articles/PMC10258612/ /pubmed/37313241 http://dx.doi.org/10.17925/EE.2023.19.1.98 Text en © Touch Medical Media 2023 ali:free_to_read www.copyright.com (http://www.copyright.com) Review process: Double-blind peer review. Compliance with ethics: All procedures were followed in accordance with the responsible committee on human experimentation and with the Helsinki Declaration of 1975 and subsequent revisions, and informed consent was received from the patients involved in this case study. Data availability: The datasets generated during and/ or analysed during the current study are available from the corresponding author on reasonable request. Authorship: The named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship of this manuscript, take responsibility for the integrity of the work as a whole, and have given final approval for the version to be published. https://creativecommons.org/licenses/by/3.0/Access: This article is freely accessible at touchENDOCRINOLOGY.com (http://touchENDOCRINOLOGY.com) © Touch Medical Media 2023
spellingShingle Paediatric Endocrinology
Waddankeri, Swaraj
Waddankeri, Meenakshi
Waddankeri, Shrikant
Arora, Kshitij
The Clinical Septet of Van Wyk–Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India
title The Clinical Septet of Van Wyk–Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India
title_full The Clinical Septet of Van Wyk–Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India
title_fullStr The Clinical Septet of Van Wyk–Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India
title_full_unstemmed The Clinical Septet of Van Wyk–Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India
title_short The Clinical Septet of Van Wyk–Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India
title_sort clinical septet of van wyk–grumbach syndrome: a case series from a tertiary care centre in kalyana karnataka, india
topic Paediatric Endocrinology
url 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
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