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- Jennifer van Helmond, MD*,†
- Ekene Ajufo, MD*
- Evan Graber, DO‡
- Aubri Milano, DO*,§
- *Department of Pediatrics, Cooper University Hospital, Camden, NJ
- †Division of Pediatric Critical Care Medicine, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE
- ‡Division of Endocrinology, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE
- §Cooper Medical School of Rowan University, Camden, NJ
AUTHOR DISCLOSURE
Dr Graber is a contributing author to Merck Manuals. Drs van Helmond, Ajufo, and Milano have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
Presentation
A 17-year-old-girl presents to our hospital from an outside emergency department with a 6-week history of worsening fatigue, abdominal pain, nausea, vomiting, polydipsia, polyuria, and a suspected unintentional 50-lb (22.7-kg) weight loss. Her medical history is significant for primary amenorrhea and depression. Her family history is significant for gestational diabetes mellitus that later developed into type 2 diabetes mellitus in her biological mother. Her mother recently died due to complications of diabetes, and her menarche occurred at age 21 years. There is also a history of type 2 diabetes mellitus in the patient’s paternal family, including aunts, uncles, and grandparents. She has a biological older sister who is healthy and who had her menarche at age 13 years.
On examination the patient is noted to have a sexual maturity rating 5 for breast development and 2 for pubic hair distribution, with scant axillary hair noted. There are no signs of acanthosis nigricans, weight is at the 88th percentile, BMI at the 53th percentile for sex and age, and she is noted to have tall stature, with height greater than the 99th percentile for sex and age. The rest of her examination findings are normal. She is found to have a serum glucose level of 810 mg/dL (45 mmol/L), serum osmolality of 339 mOsm/kg (339 mmol/kg), anion gap of 24 mEq/L (24 mmol/L), and glucose and ketones present on urinalysis. Her hemoglobin A1c level is 14%, and she is also found to have an elevated β-hydroxybutyrate level with a low insulin level and a markedly decreased C-peptide level. She has …
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