DEPOT TRIAMCINOLONE INJECTION CONTRIBUTING TO ADRENAL SUPPRESSION AND CUSHING SYNDROME: CASE REPORT AND LITERATURE REVIEW.

OBJECTIVE: To present an unusual case of Cushing syndrome in a pediatric patient caused by a single depot triamcinolone injection. METHODS: A case report followed by a literature review are presented. RESULTS: A 13-year-old male presented with rapid weight gain, elevated blood pressure, headaches, and diffuse purplish striae. Lab results revealed a low 24-hour urinary free cortisol of <3 µg (reference range is 4.0 to 56 µg/24 hours), a low midnight salivary cortisol of <50 ng/dL (reference range is <100 ng/dL), a low adrenocorticotropic hormone of <5 pg/mL (reference range is 6 to 55 pg/mL), and a lower than expected testosterone of 86 ng/dL. The values were not consistent, and upon further questioning the family admitted the patient had received a "Jesus shot" from a practitioner which was sold as a cure all. Upon further investigation, it was determined that this injection contained both dexamethasone and depot triamcinolone. The triamcinolone in this injection was quantified and remained measureable for over 4 months following injection. CONCLUSION: The cause of Cushing syndrome symptoms with adrenal suppression was exogenous glucocorticoid, specifically depot triamcinolone. Exogenous glucocorticoids can create adrenal suppression, contributing to life-threatening adrenal crises with illness or stress. Recovery of our patient's adrenal axis was demonstrable within a few months. This case highlights the potentially devastating effects of glucocorticoid treatment for unclear medical indications. Further, it raises concerns about the potential unintended consequences of such therapies and the importance for providers to raise additional questions whenever the clinical presentation and laboratory investigation are inconsistent.

Type 2 diabetes mellitus in a young girl: ominous presentation and atypical course.

OBJECTIVE: To report a 7-year-old young girl who was found unresponsive and found to be in severe diabetic ketoacidosis (DKA). Presence of obesity, acanthosis nigricans, and strong family history of type 2 diabetes mellitus (T2DM) along with negative pancreatic autoimmune antibody evaluation suggested T2DM as the culprit. METHODS: We present clinical findings, laboratory test results, and imaging reports as well as follow-up on this unique presentation of T2DM. RESULTS: A 7-year-old girl was found unresponsive at home. Initial evaluation demonstrated severe DKA and diminished neurologic status. CT-scan of the head did not demonstrate cerebral edema. Her neurologic status deteriorated dramatically on four separate occasions requiring reintubation twice. She was transitioned to intensive insulin management, requiring up to 2 units/kg/day insulin. Her insulin sensitivity improved dramatically prior to discharge. Now 18 months from diagnosis, she remains on basal insulin and metformin. CONCLUSIONS: New-onset T2DM is an increasing event in youth. Reports suggest that these youth may acutely deteriorate as opposed to the typical longer duration of onset in youth with new-onset type 1 diabetes mellitus. Attention to effective screening of those at risk and increasing public awareness of T2DM in youth is important and may reduce the risk of such dreadful presentations as described in the current report. The balance between insulin deficiency and insulin resistance is variable at different phases of the condition. This highlights the need for study of the natural history of T2DM in youth.

Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus.

A 3-year 5-month-old boy was seen for second opinion regarding polydipsia and polyuria. Previously, a diagnosis of primary polydipsia was made after normal urine concentration after overnight water deprivation testing. The boy's father, paternal grandfather, and paternal aunt had diabetes insipidus treated with desmopressin acetate. Based on this young boy's symptoms, ability to concentrate urine after informal overnight water deprivation, and family history of diabetes insipidus, we performed AVP gene mutation testing. Analysis of the AVP gene revealed a novel mutation G54E that changes a normal glycine to glutamic acid, caused by a guanine to adenine change at nucleotide g.1537 (exon 2) of the AVP gene. Commonly, patients with familial neurohypophyseal diabetes insipidus (FNHDI) present within the first 6 years of life with progressively worsening polyuria and compensatory polydipsia. Since these patients have progressive loss of arginine vasopressin (AVP), they may initially respond normally to water deprivation testing and have normal pituitary findings on brain MRI. Genetic testing may be helpful in these patients, as well as preemptively diagnosing those with a mutation, thereby avoiding unnecessary surveillance of those unaffected.

Gonadotropin-dependent precocious puberty: neoplastic causes and endocrine considerations.

Premature activation of the hypothalamic-pituitary-gonadal (HPG) axis manifests as gonadotropin-dependent precocious puberty. The mechanisms behind HPG activation are complex and a clear etiology for early activation is often not elucidated. Though collectively uncommon, the neoplastic and developmental causes of gonadotropin-dependent precocious puberty are very important to consider, as a delay in diagnosis may lead to adverse patient outcomes. The intent of the current paper is to review the neoplastic and developmental causes of gonadotropin-dependent precocious puberty. We discuss the common CNS lesions and human chorionic gonadotropin-secreting tumors that cause sexual precocity, review the relationship between therapeutic radiation and gonadotropin-dependent precocious puberty, and finally, provide an overview of the therapies available for height preservation in this unique patient population.

Health-related quality of life and cognitive functioning in pediatric short stature: comparison of growth-hormone-naïve, growth-hormone-treated, and healthy samples.

The objective of this study was to evaluate the impact of short stature on generic health-related quality of life (HRQOL) and cognitive functioning in pediatric patients. Eighty-nine youth, 48 who were initially seen with short stature (SS group) and 41 with a history of short stature being treated with growth hormone (GHT group) and one of their legal guardians participated in the study. HRQOL and cognitive functioning were assessed using the PedsQL™ 4.0 Generic Core Scales and PedsQL™ Cognitive Functioning Scale. Comparisons were made between the study groups and with a previously obtained matched healthy sample. For the GHT group, height Z score was found to be a positive predictor of overall HRQOL while duration of GHT was found to be a predictor of physical functioning. For the SS group, the difference between midparental height Z score and height Z score was found to be a negative predictor of overall HRQOL and cognitive functioning. Comparison with the healthy sample demonstrated significant negative impact on HRQOL for child self-report and on HRQOL and cognitive functioning for parent proxy-report in both study groups. The GHT group had a significantly higher child self-reported Physical Functioning score than the SS group (effect size (ES) = 0.52, p < 0.05). In conclusion, the GHT group had slightly better HRQOL scores than the SS group, but the difference was not statistically significant. Both groups had significantly lower HRQOL and cognitive functioning scores than healthy sample. Predictors of HRQOL and cognitive functioning found in this study lend support to the use of the PedsQL™ 4.0 Generic Score Scales and PedsQL™ Cognitive Functioning Scale in routine assessment of children with short stature in order to identify children at increased risk for impaired HRQOL and cognitive functioning.

Sexual precocity in a 2-year-old boy caused by indirect exposure to testosterone cream.

OBJECTIVE: To report a rare case of sexual precocity caused by inadvertent exposure to testosterone cream. METHODS: We report the clinical, laboratory, and radiologic findings of a boy presenting with sexual precocity; review short- and long-term consequences; and discuss preventative measures. RESULTS: A 2 and 7/12-year-old boy had onset of pubic hair without testicular enlargement and a period of rapid linear growth. History revealed possible topical testosterone exposure from close contact with the child's father. On physical examination, the boy had Tanner stage II pubic hair distribution. Laboratory evaluation findings were normal for age except for the testosterone concentration, which was comparable to late-pubertal and adult male levels at 371 ng/dL (reference range, <3-10 ng/dL for prepubertal male). Brain magnetic resonance imaging and testicular ultrasonography were normal. Skeletal age was advanced at age 4 and 6/12 years. Repeated laboratory evaluation, after the child's father ceased testosterone use, revealed a normal testosterone concentration of 10 ng/dL. Thus, this boy's sexual precocity was attributed to inadvertent exogenous androgen exposure. CONCLUSIONS: When examining a child with sexual precocity, asking about possible exposure to androgens and estrogens is important. Patients being treated with these products should be educated about the possible risks of testosterone exposure to others and ways to limit exposure.

Self-assessment of sexual maturation in children and adolescents with diabetes mellitus.

OBJECTIVE: To evaluate the reliability of a self-assessment tool as a surrogate means for estimating phase of sexual maturation in children and adolescents with diabetes mellitus. METHODS: Children and adolescents between 8 and 16 years of age with the diagnosis of type 1 or type 2 diabetes mellitus were recruited from the pediatric endocrinology clinic at a children's hospital. Participants were given a series of gender-appropriate drawings representing the 5 Tanner stages of sexual maturation for genital development in boys and breast and genital development in girls and asked to select the illustration that best represented their current maturity stage. The self-assessments were compared with physical examination findings by pediatric endocrinologists. Demographic and clinical data including age, race, hemoglobin A1c level, type of diabetes, and body mass index were also collected. Agreement rates between participants and physician assessment were compared. A level of agreement greater than 80% and a kappa coefficient greater than 0.61 were considered substantial. RESULTS: Eighty-seven children and adolescents completed the study. Agreement rates for girls were greater than 80%. Agreement rates for boys were 76%. All kappa coefficients for boys and girls were greater than 0.61, corresponding to good agreement. However, peripubertal participants overestimated their sexual maturity rating almost half the time. The role of age, metabolic control (as measured by hemoglobin A1c), race, type of diabetes, and body mass index did not influence a participant's ability to accurately assess sexual maturity. CONCLUSION: While useful in mid- to late-pubertal youth with diabetes, this self-assessment tool does not appear to be helpful in identifying the early stages of puberty.