Normal intellectual ability and hyperprolactinemia as unique clinical manifestations of congenital hypothyroidism: A case report and review of hypotheses.
Congenital hypothyroidism
gene mutation
hyperprolactinemia
intellectual ability
medical hypothesis
Journal
Narra J
ISSN: 2807-2618
Titre abrégé: Narra J
Pays: Indonesia
ID NLM: 9918625888906676
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
14
04
2023
accepted:
13
09
2023
medline:
8
3
2024
pubmed:
8
3
2024
entrez:
8
3
2024
Statut:
ppublish
Résumé
Congenital hypothyroidism is the deficiency of thyroid hormone in infants and hyperprolactinemia is frequently observed. Previously reported cases typically involve intellectual disability, highlighting this particular unique case report to the first reported patient demonstrating normal intellectual ability despite experiencing growth and gonad dysfunction. This study aims to present a case and review medical hypotheses related to the patient's condition. A 19-year-old female presented with a chief complaint of irregular menstruation for up to 40 days or not occurring at all. The patient experienced the first menstruation at the age of 16 years old. The patient's height was 133 cm, body weight 40 kg, and body mass index 22.61 kg/m2; other family members were normal. Physical examination showed no abnormalities, and laboratory examination showed suppressed serum free T4 (FT4) level (6.41 pmol/L), elevated thyroid stimulating hormone (TSH) level (333.700 µIU/mL), and elevated prolactin hormone level (32.03 ng/mL). Ultrasound of the thyroid gland found hypoplasia of the left and right thyroid glands. The patient was a college student enrolled in a public national university and had never complained about academic performance throughout the patient's education. The patient was diagnosed with congenital hypothyroidism and hyperprolactinemia. The patient was administered up to 100 µg daily of oral levothyroxine, which improved the patient's menstrual cycles. The patient's delayed diagnosis may be attributed to central congenital hypothyroidism being underdiagnosed. We hypothesized that thyroid-releasing hormone receptor (
Identifiants
pubmed: 38455622
doi: 10.52225/narra.v3i3.205
pii: NarraJ-3-e205
pmc: PMC10919733
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e205Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
The authors declare that there is no conflict of interest.