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<p>Acquired hypothyroidism is the most common thyroid disturbance in children, most commonly secondary to autoimmune thyroiditis. Severe hypothyroidism can be associated with an array of secondary complications. In rare cases, the disease leads to Van Wyk-Grumbach syndrome, isosexual precocious puberty. There are a few case reports in the literature of nephrocalcinosis associated with severe hypothyroidism. A previously healthy 5-year-old girl presented to the emergency department with vaginal bleeding and breast budding. She had symptoms of headaches, irritability and abdominal pain in the months prior to this. Biochemical investigation revealed thyroid stimulating hormone &gt; 750&#xa0;mU/L and unrecordably low thyroxine &lt; 3.9&#xa0;pmol/L, with positive thyroid peroxisomal antibodies. Oestradiol was raised along with follicle-stimulating hormone. Bone age was delayed and pelvic ultrasound showed a pubertal uterus and multi-cystic ovaries. Bilateral nephrocalcinosis was present with normal serum calcium and a raised urinary calcium/creatinine ratio. Parameters all improved with levothyroxine therapy. Van Wyk-Grumbach syndrome is diagnosed by profound hypothyroidism, precocious puberty and evidence of ovarian hyperstimulation. It has been shown that timely diagnosis and treatment can optimise the preservation of final adult height and prevent cognitive decline and surgical complications of multiple ovarian cysts. Interestingly, our patient also had bilateral nephrocalcinosis. Reports in the literature suggest profound hypothyroidism leads to nephrocalcinosis through high renal tubular intracytoplasmic calcium concentrations. Both Van Wyk-Grumbach syndrome and secondary nephrocalcinosis are rare complications of a common condition, responsive to standard therapy, highlighting the importance of thyroid function tests in the paediatric population.</p>

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Autoimmune Hypothyroidism with Nephrocalcinosis and Peripheral Precocious Puberty: A Case Report

  • 期刊论文

  • 发表日期：

    2025年2月15日

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  • Burke Eleanor,
  • Carolan Eirin

摘要

Acquired hypothyroidism is the most common thyroid disturbance in children, most commonly secondary to autoimmune thyroiditis. Severe hypothyroidism can be associated with an array of secondary complications. In rare cases, the disease leads to Van Wyk-Grumbach syndrome, isosexual precocious puberty. There are a few case reports in the literature of nephrocalcinosis associated with severe hypothyroidism. A previously healthy 5-year-old girl presented to the emergency department with vaginal bleeding and breast budding. She had symptoms of headaches, irritability and abdominal pain in the months prior to this. Biochemical investigation revealed thyroid stimulating hormone > 750 mU/L and unrecordably low thyroxine < 3.9 pmol/L, with positive thyroid peroxisomal antibodies. Oestradiol was raised along with follicle-stimulating hormone. Bone age was delayed and pelvic ultrasound showed a pubertal uterus and multi-cystic ovaries. Bilateral nephrocalcinosis was present with normal serum calcium and a raised urinary calcium/creatinine ratio. Parameters all improved with levothyroxine therapy. Van Wyk-Grumbach syndrome is diagnosed by profound hypothyroidism, precocious puberty and evidence of ovarian hyperstimulation. It has been shown that timely diagnosis and treatment can optimise the preservation of final adult height and prevent cognitive decline and surgical complications of multiple ovarian cysts. Interestingly, our patient also had bilateral nephrocalcinosis. Reports in the literature suggest profound hypothyroidism leads to nephrocalcinosis through high renal tubular intracytoplasmic calcium concentrations. Both Van Wyk-Grumbach syndrome and secondary nephrocalcinosis are rare complications of a common condition, responsive to standard therapy, highlighting the importance of thyroid function tests in the paediatric population.