Abstract
Background: Familial Hyperinsulinism due to HNF4A deficiency (FHI-HNF4A) is a form of diazoxide-sensitive, diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia, and a propensity to develop Maturity-Onset Diabetes of the Young type 1 (MODY1). The association between FHI-HNF4A deficiency and benign premature adrenarche (BPA) is unknown.
 The Case: We report the case of a 5-year-old girl with FHI-HNF4A, controlled on diazoxide, who presented with BPA and Tanner stage III pubic hair associated with body odor and acne. Work-up revealed elevated dehydroepiandrosterone sulfate (DHEAS), elevated free testosterone, and advanced bone age. Insulin levels were elevated in the setting of normal fasting blood glucose. We discuss the possible hormonal underpinnings of hyperandrogenism.
 Conclusion: Though the underlying pathophysiology of this phenotype is unclear, a possible synergistic mechanism exists between insulin-induced hyperandrogenism and HNF4A deficiency leading to a transient decrease of SHBG and thus increased free testosterone levels. Further investigation is required to determine the association between HNF4A dysfunction and BPA.
Highlights
Congenital hyperinsulinism (CHI) is due to a variety of etiologies that result in dysregulated insulin release from pancreatic β-cells
We report a unique case of a 5-year-old female with FHI-HNF4A who presented with Tanner 3 pubic hair, acne, body odor, elevated dehydroepiandrosterone sulfate (DHEAS) and free testosterone, and advanced bone age in the absence of elevated estradiol levels
Her presentation is most consistent with benign premature adrenarche (BPA); the relationship between FHI-HNF4A and BPA remains poorly understood
Summary
Congenital hyperinsulinism (CHI) is due to a variety of etiologies that result in dysregulated insulin release from pancreatic β-cells. HNF4A deficiency may result in decreased SHBG, with subsequent increased levels of free testosterone.[8] The clinical consequence of this process is poorly understood.
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