Cintia Castro-Correia

Thyroid carcinoma in children and adolescents: A retrospective review

OBJECTIVE To describe clinical presentation, preoperative study, intervention, histology, surgical complications and follow-up characteristics, and survival in patients with thyroid carcinoma (TC) with less than 18 years at presentation. MATERIAL AND METHODS retrospective analysis of clinical data of all children and adolescents followed in S. João Hospital from January 1, 2000 to March 31, 2010 with histologic diagnosis of TC. RESULTS Twenty-three patients were identified, 19 girls, and 4 boys. Median age at presentation was 17.0 years. Annual incidence was 2.3 cases/year. The main presenting symptom was a solitary thyroid nodule (60.8%). Three (13%) patients had risk factors for TC, 2 of the 3 had previous cervical irradiation. The other was a smoker. Total thyroidectomy was performed in 16 (69.6%), and 10 patients underwent a second surgical procedure. Four (17.4%) patients had postoperative complications. Histologic examination revealed differentiated TC in all, papillary thyroid carcinoma (PTC) in 86.9%, follicular carcinoma in the remaining. All patients received thyroxine suppressive therapy and 20 underwent therapeutic radioactive iodine (131I). During follow-up (7.1 years), 7 out of the 23 patients presented new metastases and needed new treatment. All patients are currently alive. CONCLUSIONS TC is a reality in pediatric population, thyroid routine examination should take part in all clinical examination in children and adolescents.

The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17β-hydroxysteroid-dehydrogenase type 3 enzyme deficiency

Summary The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17β-hydroxysteroid-dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (Δ4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38 ng/ml, Δ4>10.00 ng/ml, and low testosterone/Δ4 ratio=0.23. Magnetic resonance imaging of the abdominal–pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on HSD17B3 gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17βHSD3 in the testicles and/or extratesticular ability to convert Δ4 to testosterone by 17βHSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment. Learning points In this case, we highlight the late diagnosis, probably because the patient belongs to a poor family without proper primary medical care. We emphasize the psychological and social aspects in the sex assignment decision.

Metabolic risk factors in adolescent girls with type 1 diabetes

Abstract Background: The incidence of pediatric metabolic syndrome (MS) has progressively increased. The incidence of type 1 diabetes mellitus (T1DM) has also increased. Thus, some children and adolescents with T1DM exhibit MS parameters. The aim of the study was to evaluate the presence of MS parameters in female adolescents with T1DM based on their nutritional status. Methods: We evaluated 44 adolescents with T1DM (consecutive non-randomized sample) aged between 14 and 18 years, who were on intensive therapy with insulin. Patients were subdivided according to their body mass index (BMI). Variables evaluated include: age, age at diagnosis, weight, height, BMI, abdominal circumference, blood pressure, glycated hemoglobin (HbA1c), abdominal and pelvic ultrasound and lipoprotein profile. Gynecological history data were also collected. Results: Lipid profile changes were identified in 32% of overweight or obese girls and in 23% of those with an adequate weight. Hypertension (HT) was observed in 19% of overweight or obese girls and in 14% of those with a BMI≥85th percentile (Pc). The only statistically significant difference between the groups was the presence of abdominal adiposity. All other features, including the presence of dyslipidemia, HT, abdominal adiposity, non-alcoholic steatohepatitis (NASH) and polycystic ovarian syndrome (PCOS), were present in both groups. Conclusions: Although being overweight and/or obese aggravates the risk of cardiovascular disease, MS is already present in many young adolescents with T1DM of normal weight. It is necessary that MS risk factors are routinely evaluated in all diabetic adolescents, including those with an adequate BMI.

Hyponatremia in a Teenager: A Rare Diagnosis.

INTRODUCTION Hyponatremia is a common electrolyte alteration which has the potential for significant morbidity and mortality. Endocrine disorders, such as primary hypothyroidism and adrenal insufficiency are uncommon causes of hyponatremia. We present the case of a teenager with symptomatic hyponatremia caused by a rare disorder. CASE A 17-year-old boy was admitted to the emergency department with abdominal pain, nausea and vomiting, asthenia, and weight loss. He was in poor general condition, hypotensive, and he had dry mucous membranes and skin as well as mucosa hyperpigmentation. The laboratory findings showed severe hyponatremia, hyperkalemia, and renal dysfunction. The patient started inotropic support and antibiotics. Plasma cortisol and corticotropin levels allowed the diagnosis of primary adrenal insufficiency. He began replacement therapy with hydrocortisone and fludrocortisone, with gradual symptom resolution. An abdominal computed tomography scan showed adrenal hypoplasia. Findings for antiadrenal and antithyroid antibodies were positive, allowing the diagnosis of autoimmune polyglandular syndrome type II. DISCUSSION Adrenal insufficiency is a rare disease, especially in children, and its clinical manifestations are due to glucocorticoid and mineralocorticoid deficiency. In most of the cases, symptoms are nonspecific, requiring a high index of clinical suspicion. If the diagnosis and treatment are delayed, acute adrenal insufficiency carries a high morbidity and mortality.