Hidden Endocrine Complications in Rothmund Thomson Syndrome A Rare Sibling Case Study

Introduction

Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder that presents with dermatological, skeletal, and growth abnormalities but its endocrine complications often go unnoticed. A recent case report published in the Annals of Clinical Endocrinology and Metabolism sheds light on the hidden hormonal dimensions of this condition through two sibling cases.

For more peer-reviewed endocrine research and rare metabolic disorder insights, visit https://www.endometaboljournal.com/ where cutting edge clinical findings are regularly featured.

Understanding Rothmund-Thomson Syndrome (RTS)

RTS is a rare autosomal recessive disorder characterized by:

• Poikiloderma (skin atrophy, pigmentation changes, telangiectasia)
• Growth retardation
• Skeletal abnormalities
• Dental anomalies
• Increased cancer risk

The syndrome is often linked to mutations in the RECQL4 gene, although some clinically diagnosed patients do not show detectable mutations.

According to the National Organization for Rare Disorders (NORD), early recognition of rare genetic syndromes is critical to prevent long-term complications and improve multidisciplinary management outcomes.

Two Siblings, Distinct Endocrine Patterns

Both siblings demonstrated:

• Severe growth failure (<3rd percentile)
• Poikiloderma affecting face and extremities
• Microdontia and delayed tooth development
• Dystrophic nails
• Leukopenia

However, their endocrine abnormalities differed significantly.

Endocrine Findings in the Female Patient

The 14-year-old female presented with

• Hashimoto’s thyroiditis
• Elevated anti-thyroid peroxidase (Anti-TPO) antibodies
• Severe hypothyroidism requiring thyroxine therapy
• Normal onset of menarche after treatment

Interestingly, hypothyroidism has rarely been reported in RTS patients making this case particularly notable. A detailed analysis can be found in our main journal article at: https://doi.org/10.29328/journal.acem.1001010

Endocrine Findings in the Male Patient

• Hypergonadotropic hypogonadism
• Elevated LH and FSH levels
• Low plasma testosterone
• Small testicular volume
• No response to stimulation therapy

Primary hypogonadism has been documented in RTS, but persistent endocrine failure despite intervention highlights the complexity of hormonal involvement. The Endocrine Society emphasizes that early diagnosis and hormonal evaluation are crucial in rare genetic syndromes presenting with delayed puberty or gonadal dysfunction.

Why These Findings Matter

• RTS may present with autoimmune thyroid disease
• Hypogonadism can be progressive and treatment resistant
• Regular endocrine screening is essential in RTS management
• Multidisciplinary monitoring reduces long term risks
• Despite the absence of detectable RECQL4 mutations in both siblings, the clinical presentation strongly supported RTS diagnosis.

Broader Clinical Implications

RTS patients also face increased risks of

• Osteosarcoma
• Skin malignancies
• Myelodysplastic syndrome
• Squamous cell carcinoma

Because RTS involves DNA repair defects, ongoing surveillance is critical Healthcare professionals and researchers can explore more endocrine and metabolic case studies at endometaboljournal to stay updated on emerging evidence.

Key Takeaways

• RTS is more than a dermatological condition
• Endocrine abnormalities may include hypothyroidism and hypogonadism
• Genetic testing may not always confirm diagnosis
• Early hormonal evaluation improves patient outcomes
• Long-term malignancy monitoring is essentia

Call to Action

Rare endocrine presentations require attention and awareness. Explore more clinical insights and evidence-based research at https://www.endometaboljournal.com/ and join the conversation by sharing your thoughts in the comments below!

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