Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism.

OBJECTIVE: To describe new and unusual endocrinopathies in children with de novo 18q deletion (18q-) syndrome. METHODS: We describe 2 patients who have atypical thyroid conditions and 1 who also developed symptomatic hypocalcemia. RESULTS: The first patient developed hyperthyroidism at the age of 3 years, with a free thyroxine level of 3.9 (range, 0.8-1.8) ng/dL. Thyroid peroxidase antibodies were 262 (range, 0-32) IU/mL, and thyroid-stimulating immunoglobulin antibodies were 384% (range, 0-139%). On low-dose methimazole treatment, she developed hypothyroidism. Thyroid-stimulating hormone (TSH) level was 163 (range, 0.4-4.5) mIU/mL. Moreover, she later developed growth hormone deficiency. The second patient developed hypothyroidism at the age of 4 years, with a TSH level of 46 mIU/mL. However, TSH remained elevated at levels of 10 to 24 mIU/mL for 3 years, despite appropriate treatment, suggesting TSH resistance. She then developed hypocalcemic seizures and was diagnosed with pseudohypoparathyroidism. Her total calcium level was 6.6 (range, 8.5-10.5) mg/dL and parathyroid hormone level was 432 (range, 15-65) pg/dL. CONCLUSION: The first patient had a mixed picture of autoimmune hypothyroidism and hyperthyroidism, requiring a combination of methimazole and levothyroxine to achieve a euthyroid state. For the second patient, the mild TSH resistance was possibly the early suggestion of a parathyroid hormone resistant state. Although growth hormone deficiency and hypothyroidism are common in patients with 18q- syndrome, the occurrence of hyperthyroidism due to Graves' disease with the coexistence of Hashimoto's hypothyroidism is rare. Pseudohypoparathyroidism has not yet been reported in patients with 18q- syndrome.

Hashimoto Encephalopathy in Pediatrics: Report of 3 Cases.

OBJECTIVE: To describe the rare occurrence of pediatric Hashimoto encephalopathy in 3 patients. METHODS: The patients, 9 to 13 years of age, presented with new-onset seizures and other neurologic symptoms, including hemiplegia, aphasia, and memory loss. Thyroid function tests and thyroid antibodies were measured. Magnetic resonance imaging (MRI) of the brain, cerebrospinal fluid analysis, and electroencephalography were also performed. RESULTS: The first patient had a thyroid-stimulating hormone (TSH) level of 60 µIU/mL (range, 0.4-4.5), free T4 of 0.28 ng/dL (range, 0.7-1.6), and thyroid peroxidase antibody (TPO Ab) of 1243 IU/mL (range < 9). The MRI results indicated a hyperintense signal along the gyri and sulci with diffuse leptomeningeal enhancement bilaterally. The second patient had a TSH level of 25 µIU/mL, free T4 level of 0.7 ng/dL, and TPO Ab level of 3340 IU/mL. The MRI result was normal. The third patient, who was already on levothyroxine, had a TSH level of 17 µIU/mL, free T4 level of 0.81 ng/dL, and TPO Ab level of 1200 IU/mL. The MRI result was normal. All patients had significant elevation of protein in the cerebrospinal fluid and background slowing on electroencephalography. All patients were treated with high doses of intravenous methylprednisolone followed by oral prednisone and thyroid hormone replacement. CONCLUSION: These cases underscore the importance of thyroid function tests with antibodies in children presenting with acute neuropsychiatric manifestations, especially new-onset seizures without any identifiable cause. We believe that this condition is underdiagnosed in children, and a high index of suspicion is recommended.

SUBACUTE THYROIDITIS IN A CHILD.

OBJECTIVE: The objective of this report is to describe the presentation, disease course, and management of subacute thyroiditis (SAT) in children. SAT is a rare cause of thyroiditis in children and can be mistaken for acute suppurative thyroiditis, which may be more common in pediatrics. METHODS: We present a 7-year-old female, who had painful thyroid enlargement, fever, and thyrotoxicosis. RESULTS: Laboratory evaluation showed high white blood count, erythrocyte sedimentation rate, and free thyroxine levels. Thyroid-stimulating hormone was low. A computed tomography scan of the neck showed intrathyroidal fluid collection consistent with an abscess. She was treated with clindamycin, with no relief of fever and pain. Thyroid ultrasound showed diffuse enlargement of the thyroid lobes with hypoechoic areas, and no fluid accumulation, consistent with SAT. She was treated with intravenous ketorolac with relief of pain and fever, but these symptoms recurred when she was changed to oral ibuprofen. Her symptoms resolved with prednisolone at 1 mg/kg. CONCLUSION: Based on the limited number of reports in the literature, SAT in children appears to be unusual and may be less common than acute bacterial thyroiditis. In pediatric practice it is important to make the distinction between SAT and acute bacterial thyroiditis.

Excessive growth.

Tall stature and excessive growth syndrome are a relatively rare concern in pediatric practice. Nevertheless, it is important to identify abnormal accelerated growth patterns in children, which may be the clue in the diagnosis of an underlying disorder. We present a case of pituitary gigantism in a 2 1/2-year-old child and discuss the signs, symptoms, laboratory findings, and the treatment. Brief discussions on the differential diagnosis of excessive growth/tall stature have been outlined. Pituitary gigantism is very rare in the pediatrics age group; however, it is extremely rare in a child that is less than 3 years of age. The nature of pituitary adenoma and treatment options in children with this condition have also been discussed.

The prevalence of elevated serum thyroid-stimulating hormone in childhood/adolescent obesity and of autoimmune thyroid diseases in a subgroup.

OBJECTIVES: 1) To ascertain the frequency of elevated thyroid-stimulating hormone (TSH) level in obese children and adolescents and 2) to determine the prevalence of positive thyroid antibodies in the subgroup of obese children with elevated serum TSH concentration. METHODS: Retrospective chart review and prospective observation of 308 children, ages 6-17 years, with nonorganic, nonsyndromic obesity with BMI > 97th percentile. The control population consisted of 286 nonobese, otherwise-healthy children of the same age range. Thyroid function tests (free T4 or T4 with TSH) were obtained on all patients in both groups. Thyroid antibodies (thyroid peroxidase and thyroglobulin) were determined among those with elevated TSH levels. RESULTS: Elevated TSH levels of > 4 uIU/ml (reference interval 0.4-4) were noted in 36 patients within the obese group (11.7%) but only two in the control group (< 0.7%). Five out of the 36 in the obese subgroup with elevated TSH levels had positive thyroid antibodies (14%). All five subjects in the obese subgroup with positive thyroid antibodies had TSH levels >7.4 uIU/ml, with an average of 9.8 uIU/ml. Thirty-one children in the obese subgroup with negative thyroid antibodies had TSH levels < 6.7 uIU/ml (average 5.33 uIU/ml). CONCLUSION: A higher prevalence of TSH elevation was observed in the obese group (11.7%) than in the control group (0.7%). Positive thyroid peroxidase and thyroglobulin antibodies were observed in higher frequency in the obese subgroup with an elevated TSH level. The obese subgroup with positive thyroid antibodies also had higher TSH levels. Therefore, some instances of high TSH, especially those associated with antibodies, are likely due, at least in part, to thyroid disease, and others (possibly a majority) may be due to obesity, not its cause. It remains to be seen whether any children with mild TSH elevation benefit from thyroid hormone treatment.

Severe hypernatremia and hyperosmolality exacerbated by an herbal preparation in a patient with diabetic ketoacidosis.

This article reports a case of severe reversible hypernatremia exacerbated by an herbal agent "goldenseal" (Hydrastis canadensis) in an 11-year-old girl with new onset type I diabetes mellitus presented with diabetic ketoacidosis. A literature review is presented and possible mechanism of hypernatremia caused by this herbal preparation is discussed.

Hyperosmolar hyperglycemic crisis: an acute life-threatening event in children and adolescents with type 2 diabetes mellitus.

OBJECTIVE: To discuss the initial clinical manifestations and management of 8 obese African American children and adolescents who presented with a severe hyper-osmolar hyperglycemic state (HHS) and were newly diagnosed with type 2 diabetes mellitus (DM), except for one who most likely had type 1 DM. METHODS: We summarize the clinical presentation, pertinent laboratory values, management, complications, outcome, and follow-up of 8 obese pediatric patients who had HHS and alteration of mental function. RESULTS: Seven male and one female African American patients from 11 to 17 years of age with a body mass index that exceeded the 97th percentile were treated for HHS. All patients had alteration of mental status, ranging from confusion to coma. Five patients had venous CO(2) levels <14 mEq/L. Corrected sodium in all patients was in the hypernatremic range in conjunction with high effective serum osmolality. After fluid replacement (the most important aspect of treatment), intravenous insulin therapy was initiated. Metabolic control was achieved in all patients within 36 hours after admission. Complete recovery ensued in all patients except one, who died on the sixth day of hospitalization, possibly attributable to massive pulmonary embolism. CONCLUSION: The incidence of obesity and type 2 DM in children and adolescents is increasing at an alarming rate. Many patients previously undiagnosed with type 2 DM may indeed present with HHS. Because experience and published literature regarding HHS in pediatric patients are meager, this is a new challenge for physicians. Mortality and morbidity are high in this group of patients, and a high index of suspicion and awareness of this condition by physicians are warranted.

Insulin-dependent diabetes mellitus in 2 male African American children after Kawasaki disease.

Two children with insulin-dependent diabetes mellitus (IDDM) presented with diabetic ketoacidosis within 4 months of being diagnosed with Kawasaki disease (KD). Both patients were African American males younger than 4 years of age. Immune markers associated with the autoimmune cause of diabetes were not detectable in these patients at the time of diagnosis with IDDM. In 1 patient, the immune markers were repeated 6 months after diagnosis but remained negative. Both patients currently require approximately 1 unit of insulin/kg/d. Occurrence of IDDM after KD is rare; we could find no such reports in the English literature. The cause of diabetes in these 2 patients remains elusive, as does the cause of KD.