Visual Diagnosis: Obese 11-month-old Female With Round Facies

Abstract

1. Nancy L. Beck, MD* 2. Alba E. Morales, MD† 3. R.F. Buchmann, DO‡ 4. R.J. Birusingh, DO§ 1. *Assistant Professor, Division of Endocrinology, Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, TX. 2. †Associate Professor, Division of Diabetes and Endocrine, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR. 3. ‡Assistant Professor, Radiology and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR. 4. §Assistant Professor, Pediatric Pathology, University of Arkansas for Medical Sciences, Little Rock, AR. An 11-month-old girl presents to the clinic for a mild respiratory illness. Her parents also voice concern about their daughter’s appearance and offer a photograph of her taken at age 9 months (Fig 1). Both parents are slim and healthy. Figure 1. The patient at age 9 months. On examination, the infant is noted to have a round face, generalized fine body hair, acne, and central obesity (Fig 2). She currently weighs 9.6 kg (50th percentile for age), her length is 69 cm (10th percentile), and her head circumference is 43 cm (10th percentile). She was born by uncomplicated vaginal delivery having a birthweight of 3.125 kg (25th percentile) and a length of 48 cm (75th percentile). Review of the girl’s growth curves reveals the absence of linear growth during the previous month (Fig 3). Figure 2. The patient at age 11 months. Figure 3. Growth chart reveals cessation of linear growth. The child’s vital signs are normal for her age. She has mild nasal congestion. Her genitalia appear normal, but her neurologic examination shows delayed gross motor skills. She is able to pull to stand but does not cruise or walk. Based on a suspected diagnosis, the patient undergoes several laboratory examinations. Midnight salivary cortisol levels were 29.2 nmol/L (reference <0.3–4.3) and 33.4 nmol/L on consecutive nights. An overnight dexamethasone (0.3 mg/m2) suppression test revealed an 8 am serum cortisol level of 25.4 μg/dL (701 nmol/L) (reference <3 μg/dL or 83 nmol/L). The plasma cortisol concentration at 4 pm was 29.4 μg/dL (811 nmol/L). The results of renal and thyroid function tests were normal. Serum corticotropin levels obtained on two occasions were …