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<p>Congenital hypothyroidism (CH) is a prevalent condition that can lead to significant neurodevelopmental issues in infants if not diagnosed and treated promptly. Van Wyk and Grumbach Syndrome (VWGS), characterized by hypothyroidism, precocious puberty, and ovarian masses, is often misdiagnosed in low- and middle-income countries (LMICs) due to limited diagnostic resources. This case highlights systemic challenges, including delayed diagnosis and unnecessary surgical referrals.We present an 8-year-old girl diagnosed with Van Wyk-Grumbach syndrome, characterized by severe hypothyroidism, isosexual precocious puberty, and ovarian hyperstimulation. She exhibited symptoms including vaginal bleeding, abdominal distention, and marked obesity with stunted growth. Investigations revealed severe hypothyroidism (TSH: 96 mU/L) and enlarged bilateral ovarian cysts. After initiating levothyroxine therapy, the patient demonstrated remarkable clinical improvement, including reduced abdominal swelling and normalizing thyroid function. This case underscores the importance of considering hypothyroidism in differential diagnoses of ovarian masses in children, especially in regions lacking newborn screening protocols, to prevent unnecessary surgical interventions and ensure appropriate management of the condition.</p>

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Challenge faced in diagnosis and treatment of congenital hypothyroidism presenting with isosexual puberty and bilateral ovarian mass in low and middle income country: a case report

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  • 发表日期：

    2025年10月16日

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  • Ashagre Gebremichael Ganta,
  • Wintana Tesfaye Desta

摘要

Congenital hypothyroidism (CH) is a prevalent condition that can lead to significant neurodevelopmental issues in infants if not diagnosed and treated promptly. Van Wyk and Grumbach Syndrome (VWGS), characterized by hypothyroidism, precocious puberty, and ovarian masses, is often misdiagnosed in low- and middle-income countries (LMICs) due to limited diagnostic resources. This case highlights systemic challenges, including delayed diagnosis and unnecessary surgical referrals.We present an 8-year-old girl diagnosed with Van Wyk-Grumbach syndrome, characterized by severe hypothyroidism, isosexual precocious puberty, and ovarian hyperstimulation. She exhibited symptoms including vaginal bleeding, abdominal distention, and marked obesity with stunted growth. Investigations revealed severe hypothyroidism (TSH: 96 mU/L) and enlarged bilateral ovarian cysts. After initiating levothyroxine therapy, the patient demonstrated remarkable clinical improvement, including reduced abdominal swelling and normalizing thyroid function. This case underscores the importance of considering hypothyroidism in differential diagnoses of ovarian masses in children, especially in regions lacking newborn screening protocols, to prevent unnecessary surgical interventions and ensure appropriate management of the condition.