Endocrine Abstracts

Introduction: The sensitivity of tissues to thyroid hormones can be impaired rarely, either due to the genetic anomalies of the thyroid hormone metabolism and transport. Consequently, the relative triiodothyronine(T3), thyroxine(T4), and reverseT3(rT3) levels get disturbed and different clinical manifestations ensue. Two recently admitted cases are briefly described.

First Case: A 32 yrs old Saudi housewife, had been admitted to our hospital on 05.01.2023, with 2 days history of lower limb pain and weakness. The patient had a past history(2015) of metastatic Papillary thyroid carcinoma(status post total thyroidectomy+ radiotherapy with iatrogenic hypoparathyroidism). In 2017, she was diagnosed to have Myelin Oligodendrocyte Glycoprotein Antibody disease(MOGAD)[history of radicular lower-limb pain, paresthesiae, pseudo-seizures, urinary urgency and incontinence, pain and temperature deficits in left upper & both lower limbs & positive MOG antibodies (1:40) (EEG, NCV, EMG, CT & MRI normal). It was followed by recurrent, bilateral granulomatous, Pan-uveitis (since 2019). The patient also had fibroadenoma left breast dyslipidemia and left sensorineural deafness(after radiation, followed by cochlear implantation). She was on regular daily oral Thyroxine150ug, Prednisolone, Mycophenolate, along with low dose Calcium & Vitamin D. Hemodynamically stable. BMI 26.53 kg/m² S. Ca++1.98mmol/l(2.1-2.55), Mg++0.88mol/l(0.7-1.10), Phosphorus 1.61 mmol/l(0.81-1.45), ALP 53U/l(35-104), PTH 1.36pmol/l(1.6-6.9), Vit. D 27.6nmol/l, TFTs[TSH 130mIU/l(0.25-5), FT4 6.43pmol/l(12-22)], Thyroglobulin 0.04ng/l(3.5-77). Rest of the labs-normal The patient got improved after the correction of hypocalcemia. Oral calcium & Vitamin D doses were optimized. Thyroxine was increased to 175ug/d.

Second Case: The second patient(admitted on 21.12.2022), was a 17yrs old, single, Saudi male(recently transferred under adult care), having Lipopolysaccharide responsive beige-like anchor protein gene mutation(LRBA),[with chronic diarrhea, malabsorption, electrolyte imbalance, iron deficiency anemia, chronic gall-bladder sludging & failure to thrive]. He also had multiple drug allergies. The patient was on regular total parenteral nutrition for 10 yrs, but there was some disruption before the admission. He had a past history of frequent ICU admissions due to TPN line sepsis (MSSA bacteremia in April,2022), electrolyte derangements (had cardiac arrest 2yrs ago). He was taking oral thyroxine, calcium, Vitamin D & iron supplement. Vitally stable. Weight 13.2 kgs. Stunted growth, but mentally like an adult. CBC[Hb%9.1g/l[13-18], MCV 63.6fl, TLC 18.17 x10⁹/l (78%neutrophils)(4-11), PLTs 656x 10⁹/l(14-450)], LFTs mildly deranged, Blood gases(pH 7.17, PCO2 26mmHg, HCO3-18mmol/l, Corrected Ca++1.76 mmol/l (2.1-2.55), Phosphorus (0.65mmol/l(0.85-1.6), ALP 226U/l(55-149), Mg++0.46mmol/l(0.7-1.1), Vit. D 40.5nmol/l (≤ 25-severe deficiency), S. Proteins 53.10g/l(64-83), Albumin 33.2g/l(32-54), TFTs[TSH 8.18mIU/l(0.25-5), FT4 9.26pmol/l(12-22)], Random Glucose 4.1mmol/l(3.9-5.8). The patient’s deficient electrolytes got corrected back to normal with replacement, I/V fluids and resumption of his TPN. Afterwards he was discharged home.

Conclusion: Thyroid involvement, although rare, but has been reported in MOGAD & LRBA gene defect.