A Specialist Weighs In: Endocrine and Mental Health

Pediatricians face busy practices and a wide range of medical cases. It is, therefore, essential for them to possess the clinical tools needed to assess every case and determine whether further investigation and treatment are required. Endocrine disorders have symptoms that can overlap with other medical conditions. Given the variability and nonspecificity of the symptoms, the recognition of specific signs and symptoms to direct the evaluation process could be critical to avoid unnecessary evaluation. This month’s edition of Pediatrics in Review describes 3 cases in which children presented initially with nonspecific symptoms.In their article, Nelson et al describe an 18-year-old girl with worsening anxiety in the setting of a known history of general anxiety disorder and substance use. Hyperthyroidism should be considered in patients with exacerbated general anxiety disorder, especially in the presence of specific symptoms and physical examination findings, such as resting tremors, unintentional weight loss, goiter, tachycardia, and growth acceleration in younger children. A thyroid bruit and thyroid eye disease are more specific to Graves disease. In this case, the resting tremors and unintentional weight loss are highly suggestive of hyperthyroidism. It is important to note that the absence of a goiter does not necessarily rule out the presence of a thyroid disorder.Hicks et al illustrate the case of a 14-year-old boy who presented to the emergency department after a suicide attempt. He had a history of anxiety, increased stress, weight gain, hypertension, and abdominal pain. Although these symptoms are nonspecific, the presence of supraclavicular fat pad, wide purple striae, and flushed cheeks are suggestive of Cushing syndrome. Sudden and accelerated weight gain raises concern for a possible underlying endocrinopathy, especially if associated with growth stunting, which was not seen in this patient. Cushing syndrome may negatively affect symptoms of depression and anxiety. It is important to look for warning signs in the history and physical examination. Besides decreased growth velocity, Cushing syndrome is associated with truncal obesity and limb wasting, round facies, facial plethora, hirsutism, acne, frontal balding, easy bruising, hypertension, and proximal muscle weakness. Whereas narrow, pale, and pink striae are commonly seen in patients experiencing rapid weight gain, wide purple striae are more commonly seen in hypercortisolism. Another symptom of rapid weight gain is the presence of a “buffalo hump” caused by fat deposition in the dorsocervical area. Its presence is not always the result of excess cortisol, whereas the finding of supraclavicular fat pads is more indicative of Cushing syndrome.Hirsutism in an adolescent who is assigned female at birth and not receiving gender-affirming hormonal therapy is another presentation that can be associated with a variety of conditions, such as polycystic ovary syndrome, nonclassical congenital adrenal hyperplasia, exogenous androgenic corticosteroids, androgen-secreting tumor, ovarian hyperthecosis, or Cushing syndrome, among others. A careful history taking and physical examination are necessary to identify other signs of hyperandrogenism such as clitoromegaly, deepening of the voice, male pattern balding, oily skin, severe acne, menstrual irregularities, and increased muscle mass. An example of this is the case presented by Ahmed et al of a 17-year-old transgender male with clitoromegaly and hirsutism.To avoid unnecessary testing, a systematic and stepwise approach is recommended when further evaluation for an endocrine condition is considered. A prime example is the approach to diagnosing Cushing disease, which starts with identifying the degree of suspicion for this condition based on medical history and physical examination findings (as discussed previously herein) after ruling out exogenous causes. Once this is established, laboratory evaluations to confirm the presence of hypercortisolism ensue, including late night salivary cortisol level, 24-hour urine free cortisol level, and/or a low-dose, 1-mg, dexamethasone suppression test. Once hypercortisolism is confirmed, the next step is to determine whether it is corticotropin dependent by measuring a corticotropin level, which in turn guides the endocrinologist to elect the next imaging site and modality. (1) Another example is the approach best followed to determine the etiology of hyperthyroidism after confirming its presence with suppressed thyrotropin and elevated free thyroxine and triiodothyronine levels and after ruling out factitious hyperthyroidism. In the absence of a palpable thyroid nodule on physical examination, the presence of thyrotropin receptor antibody establishes the diagnosis of Graves disease without obtaining imaging studies such as thyroid ultrasonography or radioactive iodine uptake scanning. In the absence of antibodies, thyroid ultrasonography and radioactive iodine uptake scanning are considered by pediatric endocrinology to further assess the underlying etiology (toxic nodule, Graves disease, or subacute thyroiditis). (2) Furthermore, when signs of virilization are noted through history and examination findings, laboratory tests such as 17-hydroxyprogesterone, androstenedione, dehydroepiandrosterone sulfate, and testosterone are useful to screen for the most common adrenal disorders associated with hyperandrogenism. In addition, checking luteinizing hormone and follicle-stimulating hormone levels may be used as an extra tool when high doses of exogenous androgens are expected to be the cause of virilization.The 3 cases presented in this month’s Pediatrics in Review serve as great examples of the variability and nonspecificity of the presentation of endocrine disorders. Identifying the presence of more specific medical history and physical examination findings may further guide the next steps in laboratory tests and imaging studies. When a diagnosis is suspected, it is best to adopt a systematic diagnostic approach to avoid unnecessary, costly, and potentially invasive testing.