Full case: A slender teen with a growing abdomen and shrinking height velocity

Presenting problem

A 13-year-old girl with type 1 diabetes mellitus (T1DM) presented for evaluation of growth faltering and absent pubertal development. Parents were 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 diabetic ketoacidosis (DKA) episodes and persistently elevated hemoglobin A_1c (HbA_1c 9–10.7%). Records show inconsistent glucose logs and missed insulin doses. No exogenous steroid exposure. No chronic gastrointestinal symptoms, heat/cold intolerance, or galactorrhea. Diet is variable. No alcohol, drugs, or sexual activity. Family history was negative for endocrine or hepatic disease.

Physical examination

The physical examination recorded 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 were reported. Also, thyroid exam was normal, vital signs were stable, and BMI was low-normal.

Initial testing and rationale

We prioritized labs 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 markedly abnormal.
• Pubertal delay workup: Consider FSH (follicle-stimulating hormone) and LH (luteinizing hormone)/estradiol (prepubertal range expected with functional suppression), TSH (thyroid stimulating hormone)/Free T4 (thyroxine) 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. 

Differential diagnosis

Mauriac syndrome is a rare complication of poorly controlled T1DM, primarily observed in pediatric patients. First described by Pierre Mauriac in 1930, this syndrome is characterized by growth failure, delayed puberty, hepatomegaly, cushingoid appearance, and dyslipidemia, all occurring in the setting of chronic insulin deficiency and sustained poor glycemic control. Although its incidence has significantly decreased with modern advances in diabetes management, Mauriac syndrome remains an important clinical consideration in children and adolescents with recurrent DKA and persistently elevated hemoglobin A_1C (HbA_1C) levels. In our patient, repeated DKA episodes and an HbA1C persistently ranging from 9% to 10.7%, despite demonstrated knowledge of diabetes management, created the metabolic environment in which Mauriac syndrome developed.

The underlying pathophysiology of Mauriac syndrome involves several interconnected mechanisms resulting from chronic underinsulinization. Insulin deficiency impairs glucose utilization and anabolic signaling necessary for normal growth, leading to growth failure and delayed pubertal development. Increased lipolysis and proteolysis further contribute to peripheral muscle wasting, producing the thin extremities seen in these patients. Excessive hepatic glycogen accumulation due to unopposed gluconeogenesis and glycogenesis results in hepatomegaly, while dysregulation of lipid metabolism leads to hyperlipidemia. Insulin also plays a central role in maintaining hypothalamic-pituitary-gonadal axis function, and its deficiency disrupts this hormonal pathway, exacerbating pubertal delay.^1-3

Why we ordered (and didn’t order) certain tests

Because Mauriac syndrome and GH are largely reversible with insulin optimization, we emphasized supervised insulin therapy and close metabolic monitoring before invasive diagnostics. We did not pursue liver biopsy initially, given: (1) classic clinical context; (2) safety of a therapeutic trial of strict control; and (3) literature supporting rapid biochemical improvement of GH/MS with euglycemia. We obtained an ophthalmologic evaluation for baseline retinopathy. Ophthalmologic evaluation at that point revealed “quiet external and slit lamp exam” and “quiet dilated fundus exam without microvascular changes in diabetes in either eye”.^4-8

Final diagnosis

Mauriac syndrome—a rare, potentially reversible complication of chronically poor T1DM control characterized by growth failure, delayed puberty, hepatomegaly due to glycogen accumulation, dyslipidemia, and cushingoid/truncal habitus in some patients.

Treatment, prognosis, and follow-up

We implemented strict supervision of insulin administration, structured school-day glucose checks (with nursing support), and behavioral strategies (CBT-informed adherence work). Given significant dyslipidemia, atorvastatin 10 mg daily was initiated. Within months, HbA_1c normalized, height and weight velocities improved, pubertal progression commenced, liver enzymes and lipid profile normalized, and hepatomegaly resolved. This reversibility is a hallmark of MS/GH when metabolic control is sustained. Ophthalmologic follow-up remained normal.

What makes this a “Puzzler”?

• The paradox of hyperglycemia with growth failure and pubertal delay can misdirect clinicians toward endocrine deficiencies or undernutrition alone.
  
• The body habitus (thin limbs, protuberant abdomen) and dyslipidemia in a teen with T1DM can mimic NAFLD or Cushing syndrome.
  
• The case underscores how quickly Mauriac syndrome features reverse with the right systems-level interventions (school nursing partnership, supervised dosing, behavioral support)—arguably the most educational “twist.”

Key teaching points

1. Think Mauriac syndrome in any child/adolescent with T1DM, poor control, hepatomegaly, and growth/puberty delay—even in 2025. PubMed+1
2. Distinguish Mauriac syndrome from isolated glycogenic hepatopathy: MS adds extrahepatic features (growth/puberty), while GH may present as liver-limited disease; both improve with euglycemia. PMCScienceDirect
3. Biopsy is usually avoidable when classic phenotype improves rapidly with supervised insulin therapy; pursue if atypical course or no biochemical reversal. PMC
4. Watch for persistent lactatemia during DKA management—reported in mauriac syndrome and can be a clue at presentation. PubMed
5. Integrate adherence supports (school nursing/CBT/family systems). These are as “therapeutic” as insulin in preventing recurrence.

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References:

1. Tessa Tonleu J, Reyes NA, Hillerson ND, Horton WB. Improvement of Glycogenic Hepatopathy With Minimal Corresponding Improvement of Glycemic Control in a Person With Type 1 Diabetes: Case Report and Literature Review. AACE Clin Case Rep. 2024;11(2):113-116. Published 2024 Dec 17. doi:10.1016/j.aace.2024.12.004
2. Cleto AS, Schirlo JM, Beltrame M, Gomes VHO, Machozeki J, Martins CM. Clinical, diagnostic and therapeutic aspects of Mauriac syndrome, a complication of type 1 diabetes mellitus: A systematic review. Endocrinol Diabetes Nutr (Engl Ed). 2025;72(7):501611. doi:10.1016/j.endien.2025.501611
3. Soon GST, Torbenson M. The Liver and Glycogen: In Sickness and in Health. International Journal of Molecular Sciences. 2023; 24(7):6133. https://doi.org/10.3390/ijms24076133
4. Fox MT, Tamaroff J, Percy AG, et al. Hepatomegaly and short stature in a 14-year-old with type 1 diabetes mellitus: case report. Family Practice. 2020;38(3):360-364. doi:https://doi.org/10.1093/fampra/cmaa114
5. Khoury J, Zohar Y, Shehadeh N, Saadi T. Glycogenic hepatopathy. Hepatobiliary & Pancreatic Diseases International. 2018;17(2):113-118. doi:https://doi.org/10.1016/j.hbpd.2018.02.006
6. AAnicic MN, Katja Dumic, Lucija Kolega Mrkic, et al. Prevalence of liver disorders in children and adolescents with type 1 diabetes mellitus. BMC Pediatrics. 2025;25(1):592-592. doi:https://doi.org/10.1186/s12887-025-05914-z
7. El Tobgy N, Hinz L. Persistent Lactatemia in Mauriac Syndrome. Case Rep Endocrinol. 2024;2024:5599984. Published 2024 May 7. doi:10.1155/2024/5599984
8. Sherigar JM, Castro J, Yin YM, Guss D, Mohanty SR. Glycogenic hepatopathy: A narrative review. World J Hepatol. 2018;10(2):172-185. doi:10.4254/wjh.v10.i2.172