Can you diagnose this slender teen with a growing abdomen and shrinking height velocity?

Welcome to this Contemporary Pediatrics poll. Take a look at the following case below. After reading through the description, choose a multiple-choice answer and try to guess the correct patient diagnosis.

Then visit our website on Wednesday, November 26, at 12:00 PM ET or later for the full case presentation, differential diagnosis, and correct patient diagnosis.

This case was presented by Vanessa Victor-Linkenhoker, MD; Jessica Lamie, OMS-IV; and Marie Nicole Antonios, OMS-IV.

The case

A 13-year-old girl with type 1 diabetes mellitus (T1DM) presented for evaluation of growth faltering and absent pubertal development. Parents are concerned that “her arms and legs are so skinny, but her stomach keeps sticking out.”

History of present illness

Diagnosed with insulin-dependent diabetes at age 8, she initially demonstrated good glycemic control under close adult supervision. Over the last 2–3 years—as she assumed more independence—she has had multiple DKA episodes and persistently elevated hemoglobin A1c (HbA1c 9–10.7%). Records show inconsistent glucose logs and missed insulin doses. No exogenous steroid exposure. No chronic GI symptoms, heat/cold intolerance, or galactorrhea. Diet is variable. No alcohol, drugs, or sexual activity. Family history negative for endocrine or hepatic disease.

Physical examination

Slender extremities with reduced muscle bulk, protuberant abdomen, Tanner I breasts/pubic hair (delayed puberty), and hepatomegaly to ~3–4 cm below the costal margin. No cushingoid facies, striae, or hirsutism. Normal thyroid exam. Vital signs stable; BMI low-normal.

Initial testing and rationale

We prioritized labs to evaluate metabolic control, hepatic involvement, and endocrine contributors to growth delay:

• Glycemic control: HbA1c markedly elevated (10.7%).
• Liver injury/lipids: Transaminases elevated; fasting lipid panel markedly abnormal.
• Pubertal delay workup: Consider LH/FSH/estradiol (prepubertal range expected with functional suppression), TSH/free T4 to rule out hypothyroidism, celiac panel (IgA tissue transglutaminase) given T1DM association, morning cortisol if clinical suspicion for Cushing syndrome, and IGF-1 if poor growth persists after glycemic control improves.
• Findings—together with the phenotype—prompted targeted consultation with pediatric endocrinology; we also engaged behavioral health for adherence support.

Below, take your best guess at diagnosing this patient.

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