Assessment of micronutrient intakes, anxiety states and risk factors affecting disease development in individuals with hypothyroidism / Avaliação da ingestão de micronutrientes, níveis de ansiedade e fatores de risco que afetam o desenvolvimento de doenças em indivíduos com hipotireoidismo

ABSTRACT Objective This study aimed to assessment the risk factors affecting development of hypothyroidism and to examine the selected dietary micronutrient intakes of primary hypothyroidism, subclinical hypothyroidism and euthyroid individuals comparing the healthy control group, and to evaluate the relationship between dietary micronutrient intakes and serum thyroid hormones. Additionally, this study planned to observe anxiety severities in different hypothyroidism groups. Methods This case-control study was carried out with 120 individuals: 60 in the patient group and 60 in the control group. The patient group was further subdivided into primary hypothyroidism, subclinical hypothyroidism, and euthyroid groups. A questionnaire and the Beck Anxiety Inventory were administered to all participants. 24-hour food consumption records, anthropometric measurements, biochemical parameters were taken. Results When serum vitamin D level increased by one unit (ng/mL), risk of disease decreased by 1%; and when age (year) increased by one unit, risk of disease increased by 5.1%. Dietary micronutrient intakes were similar in all groups. There were negative correlations between serum T4 levels and selenium intake in primary hypothyroidism group, and serum TSH levels and copper intake in subclinical hypothyroidism group, and serum TSH levels and iodine intake in control group. Beck Anxiety Inventory scores of patient groups were higher than control group. There was no statistically difference between primary, subclinical and euthyroid hypothyroidism groups in terms of anxiety scores. Conclusion Serum vitamin D level and age affected the risk of hypothyroidism. Micronutrient intake was associated with thyroid parameters. Anxiety was higher in hypothyroid patients, independent of thyroid hormone levels.

RESUMO Objetivo Este estudo teve como objetivo avaliar os fatores de risco que afetam o desenvolvimento do hipotireoidismo e examinar os consumo de micronutrientes dietéticos selecionados em indivíduos com hipotireoidismo primário, hipotireoidismo subclínico e eutireoideo, comparando-os com o grupo controle saudável, e avaliar a relação entre os consumo de micronutrientes dietéticos e as hormonas tiroideias séricas. Além disso, este estudo objetivou observar a gravidade da ansiedade em diferentes grupos de hipotireoidismo. Métodos Este estudo de caso-controle foi realizado com 120 indivíduos: 60 no grupo pacientes e 60 no grupo controle. O grupo pacientes foi ainda subdividido em hipotireoidismo primário, hipotireoidismo subclínico, e grupos eutróide. Um questionário e o Inventário de Ansiedade de Beck foram administrados a todos os participantes. Foram recolhidos registos de consumo alimentar diário (i.e., 24 horas por dia), medições antropométricas, e parâmetros bioquímicos. Resultados Quando o nível de vitamina D no soro aumentou uma unidade (ng/mL), o risco de doença diminuiu 1%; e quando a idade (ano) aumentou uma unidade, o risco de doença aumentou 5.1%. A ingestão de micronutrientes na dieta foi semelhante em todos os grupos. Verificaram-se correlações negativas entre os níveis séricos de T4 e a ingestão de selênio no grupo com hipotireoidismo primário, e entre os níveis séricos de TSH e a ingestão de cobre no grupo com hipotireoidismo subclínico, e entre os níveis séricos de TSH e a ingestão de iodo no grupo controle. Pontuação do Inventário de Ansiedade de Beck dos grupos pacientes foram superiores ao grupo controle. Não houve diferença estatística entre os grupos de hipotireoidismo primário, subclínico e eutireoideo em termos de pontuação de ansiedade. Conclusão O nível sérico de vitamina D e a idade afetaram o risco de hipotireoidismo. A ingestão de micronutrientes foi associada aos parâmetros da tireoide. A ansiedade foram maior nos doentes com hipotireoidismo, independentemente dos níveis da hormona tiroideia.

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens. In cases with 46,XX karyotype, mutations in the CYP19A1 gene can lead to disorders of sex development. Clinical findings in aromatase deficiency vary depending on the degree of deficiency. The effect of increased androgens, including acne, cliteromegaly and hirsutism, can be observed in mothers with placental aromatase deficiency. A decrease in maternal virilisation symptoms is observable in the postpartum period. It is rarely reported that there is no virilization in pregnancy. In this study, two 46,XX sibling having the p.R115X (c.343 C>T) novel pathogenic variant in the CYP19A1 gene and raised as different genders, with no maternal virilisation during pregnancy, are presented. In conclusion, 46,XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if there is no history of maternal virilisation during pregnancy.

A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.

Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis. A 4-year-old male patient was admitted due to short stature, motor-mental retardation, and constipation. At physical examination, coarse facial appearance, eyelid edema, pallor, and umbilical hernia were observed. Primary thyroid hormone resistance should be considered in patients with phenotypically hypothyroid features. Laboratory analysis found moderate elevation in free triiodothyronine (T3) levels, normochromic normocytic anemia, and elevated creatine kinase levels. In conclusion, THRA gene mutation should be considered in patients with clinical hypothyroid findings and increased/moderately elevated free T3, decreased/ normal free thyroxine, normal thyroid-stimulating hormone levels, and increased muscle enzymes.

Is anti-Mullerian hormone an indicator of potential polycystic ovary syndrome in prepubertal girls with simple obesity?

The aim of this anti-Mullerian hormone (AMH) levels in prepubertal obese girls are a predictive marker for polycystic ovary syndrome (PCOS) and to investigate the relationship between insulin resistance and AMH. Sixty girls with premature pubarche or obesity and 20 healthy controls between the ages of 6-9 were enrolled. Of the patients, 22 (36.7%) were in the obese group (Group 1), 28 (46.7%) in the early pubarche group (Group 2) and 10 (16.6%) in the early pubarche + obese group (Group 3). Comparison of the subjects' fasting insulin and homeostatic model assessment insulin resistance (HOMA-IR) demonstrated significantly higher values for group 1 compared to group 2 (p=0.001 and 0.001) and, likewise, significantly higher values for group 3 compared to group 2. There was no significant differences between all groups for AMH levels. AMH levels were not significantly different in the obese girls compared to the other groups. There was also no relationship between AMH and insulin resistance in any of the groups. Further studies, however, are needed due the limited number of subjects in this study and in the absence of adequate relevant data.