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Journal : Narra J

Normal intellectual ability and hyperprolactinemia as unique clinical manifestations of congenital hypothyroidism: A case report and review of hypotheses Zulfa, Putri O.; Debbyousha, Maulina; Sucipto, Krishna W.; Ekadamayanti, Agustia S.; Firdausa, Sarah; Zufry, Hendra
Narra J Vol. 3 No. 3 (2023): December 2023
Publisher : Narra Sains Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52225/narra.v3i3.205

Abstract

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 (TRHR) gene mutation might contribute to the underlying cause of hyperprolactinemia and normal intellectual ability of the patient. Further study on the significance of TRHR gene mutations in congenital hypothyroidism is required to improve diagnosis and treatment.
Severe hypocalcemia as a cause of transient ischemic attack? A debatable case and evidence from literature Zufry, Hendra; Debbyousha, Maulina; Firdausa, Sarah; Ekadamayanti, Agustia S.; Sucipto, Krishna W.; Sari , Julia
Narra J Vol. 3 No. 2 (2023): August 2023
Publisher : Narra Sains Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52225/narra.v3i2.228

Abstract

Hypocalcemia and transient ischemic attack (TIA) are different medical disorders; however, limited evidence suggests a possible link between the two. The underlying pathomechanisms by which hypocalcemia may cause cerebrovascular damage are difficult to comprehend. The aim of the study was to present an individual experiencing TIA that possibly due to severe hypocalcemia that associated with hypoparathyroidism after total thyroidectomy; and to explore the available evidence of its cause-effect relationship through available literature. A 68-year-old man presented to Dr. Zainoel Abidin Hospital, Banda Aceh, Indonesia with complaints of weakness, especially in the right limbs that had worsened in the last week. The patient experienced unconsciousness for an hour before the admission; disorientation and anterograde amnesia over the time of recovering of consciousness. Other complaints included frequent muscle cramps, numbness in both arms and legs, dizziness, swallowing difficulty, nausea, and vomiting. The patient had a history of total thyroidectomy for a large struma diffuse 18 years ago and was prescribed several medications. However, the patient was overwhelmed by forgetfulness which had become more frequent in recent months resulting in medication nonadherence. The vital sign was stable and Chovsteck's sign was positive. The Montreal Cognitive Assessment (MoCA) revealed impairment in the visuospatial/executive component and delayed memory. Laboratory tests revealed severe hypocalcemia, altered thyroid function, hypomagnesemia, elevated D-dimer and fibrinogen, and vitamin D deficiency. TIA and severe hypocalcemia were proposed as the diagnosis. Prompt initiation of appropriate treatment, including calcium supplementation, anticoagulation, and neuroprotective agents, led to significant clinical improvement. Evidence from available literature suggests that there is a possible link between severe hypocalcemia and TIA that occurred in this patient. However, more studies are warrant to establish this cause-effect relationship.