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 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 the age of 8 years, she initially demonstrated good glycemic control under close adult supervision. Over the past 2 to 3 years—as she has assumed more independence—she has had multiple diabetic ketoacidosis episodes and persistently elevated hemoglobin A_1C (HbA_1C; 9%-10.7%). Records show inconsistent glucose logs and missed insulin doses. There is no exogenous steroid exposure. No sign of chronic gastrointestinal symptoms, heat/cold intolerance, or galactorrhea is seen. Diet is variable. No alcohol use, drug use, or sexual activity is reported. Family history is negative for endocrine or hepatic disease.

Physical examination

Patient shows slender extremities with reduced muscle bulk, protuberant abdomen, Tanner 1 breasts/pubic hair (delayed puberty), and hepatomegaly to approximately 3 to 4 cm below the costal margin. No sign of Cushingoid facies, striae, or hirsutism is seen. Thyroid examination results are normal. Vital signs are stable; body mass index is low-normal.

Initial testing and rationale

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

• Glycemic control: HbA_1C markedly elevated (10.7%)
• Liver injury/lipids: Transaminases elevated; fasting lipid panel results markedly abnormal
• Pubertal delay workup: Consider luteinizing hormone/follicle-stimulating hormone/estradiol (prepubertal range expected with functional suppression), thyrotropin/free thyroxine to rule out hypothyroidism, celiac panel (IgA tissue transglutaminase) given T1DM association, morning cortisol if clinical suspicion for Cushing syndrome, and insulinlike growth factor 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.

Want more Puzzler case studies? Click here.