Endocrine Phenotypes and Hormonal Treatment in Meier-Gorlin Syndrome: Report of Two Cases and a Systematic Review of Literature.
Kumar Swapnil, Rajdeep Basu, Roohi Nanda et al.
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Case in brief
This report details two cases of Meier-Gorlin syndrome (MGORS), a rare condition linked to DNA replication gene variants. A 14-year-old girl presented with a CDC6 variant and mammary hypoplasia, while an 11-year-old boy with a GMNN variant exhibited severe short stature and growth hormone deficiency (GHD). The boy showed significant height improvement with growth hormone treatment, highlighting the potential benefits of hormonal therapy in MGORS.
What made this case unusual
The 14-year-old girl is the first reported MGORS case with a CDC6 variant and associated mammary hypoplasia, expanding the phenotypic spectrum of this syndrome.
Diagnostic / clinical pearl
Clinicians should consider Meier-Gorlin syndrome in patients with short stature and atypical pubertal development, particularly when classic features are absent.
Why it matters
Understanding the endocrine implications of MGORS can guide appropriate screening for growth hormone deficiency and inform treatment decisions, enhancing patient management.