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Background <p>DiGeorge syndrome is a common microdeletion disorder caused by deletion in the 22q11.2 region. It typically presents with immune dysfunction, parathyroid hypoplasia, and congenital heart defects. Testis-specific serine/threonine kinases (TSSKs), involved in spermatogenesis, are located in this region. Although reproductive issues like hypogonadism and infertility have been reported, progressive hypergonadotropic hypogonadism has not previously been described in patients with DiGeorge syndrome.</p> Case presentation <p>: We report a 19-year-old male diagnosed with DiGeorge syndrome at age 13, who exhibited pubertal arrest. At age 15, his testicular volumes were 5 mL (right) and 6 mL (left). Gonadotropin levels were elevated (FSH and LH), but testosterone was adequate,&#xa0;so treatment was deferred. By age 19, the clinical findings remained unchanged. Despite planning for semen analysis, the patient reported limited erections and no ejaculation, preventing assessment. This represents the first reported case of progressive hypergonadotropic hypogonadism in DiGeorge syndrome.</p> Conclusions <p>This case expands the endocrine phenotype of DiGeorge syndrome and underscores the importance of regular pubertal assessments. When pubertal delay is suspected, timely hormonal and genetic evaluation is crucial to detect rare but significant complications such as primary gonadal failure.</p>

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Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月28日

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  • Duygu Deligözoğlu,
  • Gamze Mutlucan Köseoğlu,
  • Esra Kılıç,
  • Derya Tepe,
  • Pınar Kocaay

摘要

Background

DiGeorge syndrome is a common microdeletion disorder caused by deletion in the 22q11.2 region. It typically presents with immune dysfunction, parathyroid hypoplasia, and congenital heart defects. Testis-specific serine/threonine kinases (TSSKs), involved in spermatogenesis, are located in this region. Although reproductive issues like hypogonadism and infertility have been reported, progressive hypergonadotropic hypogonadism has not previously been described in patients with DiGeorge syndrome.

Case presentation

: We report a 19-year-old male diagnosed with DiGeorge syndrome at age 13, who exhibited pubertal arrest. At age 15, his testicular volumes were 5 mL (right) and 6 mL (left). Gonadotropin levels were elevated (FSH and LH), but testosterone was adequate, so treatment was deferred. By age 19, the clinical findings remained unchanged. Despite planning for semen analysis, the patient reported limited erections and no ejaculation, preventing assessment. This represents the first reported case of progressive hypergonadotropic hypogonadism in DiGeorge syndrome.

Conclusions

This case expands the endocrine phenotype of DiGeorge syndrome and underscores the importance of regular pubertal assessments. When pubertal delay is suspected, timely hormonal and genetic evaluation is crucial to detect rare but significant complications such as primary gonadal failure.