Severe Hypothyroidism Research Articles

Myxedema Heart and Pseudotamponade.

ContextThyroid hormone plays a critical role in cardiovascular function. Severe hypothyroidism can be associated with “myxedema heart” characterized by relative bradycardia and pericardial effusion. Effusions associated with severe hypothyroidism can be large. Despite the large volume of effusions, tamponade is not a common consequence. However, with the incorporation of echocardiography into routine practice for evaluation of effusion, echocardiographic findings suggestive of clinical tamponade occur frequently.Case DescriptionWe report a series of 3 patients with large pericardial effusions secondary to severe hypothyroidism. These cases serve to demonstrate the discordance between echocardiographic signs consistent with tamponade with a patient’s stable clinical hemodynamics. We also report the development of bronchial obstruction, a rare complication of a large effusion due to severe hypothyroidism.ConclusionsWhile pericardial effusion associated with severe hypothyroidism has been described for decades, the echocardiographic findings may be less well known and may lead to unnecessary downstream testing or invasive management. We use our case series to facilitate a summary of what is known about the epidemiology, mechanism and physiology, and expected outcomes of myxedema associated pericardial effusion. Finally, in the setting of current paucity of clinical guidelines, we aim to familiarize clinicians with the phenomenon of pseudotamponade and suggest management strategies for myxedema associated pericardial effusion to guide clinicians to use conservative medical management in majority of cases.

Rhabdomyolysis from severe hypothyroidism – A case report

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Severe hypothyroidism causing acute ileus and polyserositis

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Humoral changes during resolution of short term severe hypothyroidism

Humoral changes during resolution of short term severe hypothyroidism

Severe hypothyroidism secondary to Hashimoto’s thyroiditis and its implications for surgery

Severe hypothyroidism secondary to Hashimoto’s thyroiditis and its implications for surgery

HDL Cholesterol Efflux Capacity is Impaired in Severe Short-Term Hypothyroidism Despite Increased HDL Cholesterol.

Severe hypothyroidism has profound effects on lipoprotein metabolism including high-density lipoprotein (HDL) cholesterol elevations but effects on HDL function metrics are unknown. To determine the impact of severe short-term hypothyroidism on HDL particle characteristics, HDL cholesterol efflux capacity (CEC), and HDL antioxidative capacity. Observational study with variables measured during severe short-term hypothyroidism (median TSH 81 mU/L) and after 20 weeks of thyroid hormone supplementation (median TSH 0.03 mU/L) (Netherlands Trial Registry ID 7228). University hospital setting in The Netherlands. Seventeen patients who had undergone a total thyroidectomy for differentiated thyroid carcinoma. HDL particle characteristics (nuclear magnetic resonance spectrometry), CEC (human THP-1-derived macrophage foam cells and apolipoprotein B-depleted plasma), and HDL anti-oxidative capacity (inhibition of low-density lipoprotein oxidation). During hypothyroidism plasma total cholesterol, HDL cholesterol and apolipoprotein A-I were increased (P ≤ 0.001). HDL particle concentration was unchanged, but there was a shift in HDL subclasses toward larger HDL particles (P < 0.001). CEC was decreased (P = 0.035), also when corrected for HDL cholesterol (P < 0.001) or HDL particle concentration (P = 0.011). HDL antioxidative capacity did not change. During severe short-term hypothyroidism CEC, an important antiatherogenic metric of HDL function, is impaired. HDL cholesterol and larger HDL particles are increased but HDL particle concentration is unchanged. Combined, these findings suggest that HDL quality and quantity are not improved, reflecting dysfunctional HDL in hypothyroidism.

Severe rhabdomyolysis following an uncomplicated endoscopic procedure: a case report

Rhabdomyolysis in adults after anesthetic administration is uncommon in those without underlying risk factors. We present a 34-year-old female with history of severe gastroesophageal reflux disease (GERD), hypothyroidism, and migraines who developed severe rhabdomyolysis following an uncomplicated general anesthetic for esophagogastroduodenoscopy (EGD) and placement of Bravo esophageal pH monitor.

Clinical and Biochemical Characteristics of Severe Hypothyroidism Due to Autoimmune Thyroiditis in Children.

Introduction: In the majority of countries, autoimmune thyroiditis is the main cause of acquired hypothyroidism in children. Typically, the natural course of the disease is initially insidious and the diagnosis is incidental. There are some children who develop severe hypothyroidism without a proper diagnosis. The aim of the study was to analyze the clinical and biochemical profiles of children with severe primary hypothyroidism due to autoimmune thyroiditis.Materials and Methods: We analyzed the records of 354 patients diagnosed between 2009 and 2019 with autoimmune thyroiditis. Only patients with TSH above 100 μIU/mL, associated with decreased free thyroxine and the presence of antithyroid antibodies, were enrolled in the study. The analysis encompassed clinical symptoms, thyroid and biochemical status, bone age, and imaging.Results: Twenty-six children were enrolled in the study. The mean age at diagnosis was 10.26 ± 3.3 years, with a female preponderance of 1.8:1. The most frequent symptom was growth impairment (77%) and weight gain (58%). Goiters were present in 42% of patients. Less common findings were pituitary hypertrophy (four patients) and hypertrichosis (three patients). Median values at the time of diagnosis were TSH 454.3 uIU/ml (295.0–879.4), anti-TPO antibodies 1,090 IU/ml, and anti-Tg antibodies 195 IU/ml. Anti-TSHR ab were evaluated only in six out of the 26 patients. The characteristic biochemical profile was correlated with the grade of hypothyroidism, and the strongest correlations were found with CBC parameters, lipid profile, aminotransferases, and creatine.Conclusion: In children with severe hypothyroidism, the most sensitive symptoms are growth arrest and weight gain despite the fact that, in some children, the auxological parameters at presentation could be within normal values for the population. The specific biochemical profile closely correlates to the severity of thyroid hormone deficiency and involves mostly erythropoiesis, liver function, and kidney function. Pituitary enlargement should be considered in each child with severe hypothyroidism. It is necessary to conduct prospective studies evaluating the actual frequency of anti-TSHR antibodies and pituitary enlargement in children with extremely high TSH, especially those presenting without goiters.

Massive Ovarian Enlargement with Multiple Cysts Mimicking Ovarian Neoplasm and Primary Hypothyroidism

Background: Cystic enlargement of ovaries may develop due a large number of causesand may need surgical intervention. Moreover, some ovarian cysts arise due to endocrinedisorders &amp; do not require surgery. We report an unusual case of massive enlargement ofovaries with multiple cysts in a girl with severe hypothyroidism. Morphologic features ofcysts on ultrasonography and clinical features of hypothyroidism with elevated TSH levelfacilitates diagnosis of multiple ovarian cysts and hypothyroidism.&#x0D; Case presentation: A 23-year-old unmarried woman presented with abdominal enlargement,pain and moderate anemia. Abdominal ultra sonogram revealed huge enlargement of theovaries with multiple large cysts. She was admitted in a hospital, treated with blood transfusionand laparotomy was decided. She was referred to us in a private clinic. On further evaluation, she had features of hypothyroidism with high TSH level and abdomino-pelvic ultrasoundrevealed enlarged ovaries with multiple large thin-walled cysts and mild ascitis. Conservativemanagement with thyroxin replacement therapy was given and after 3 weeks of thyroxine(T4) therapy, follow-up abdominal ultrasound showed significant reduction in ovarian size.After 4 months of thyroxine therapy, ovarian size normalized, cysts disappeared completelyand there was significant improvement of patient’s condition and she became euthyroid.&#x0D; Conclusion: This case report highlights the rare association between hypothyroidism andmulticystic ovarian enlargement. It is necessary to keep in mind the possibility ofhypothyroidism in the differential diagnosis of adult patients with ovarian enlargement andmultiple cyst formation in order to prevent unnecessary ovarian surgery.&#x0D; Bangladesh J Obstet Gynaecol, 2018; Vol. 33(1) : 78-81

Compartment syndrome of the leg after thyroid hormone withdrawal; two cases and a systematic review of the literature

BackgroundAcute compartment syndrome is a rare complication of severe hypothyroidism. If the symptoms are not recognized promptly and treatment initiated immediately, there is a high risk of permanent damage. Only few other cases of compartment syndrome due to hypothyroidism have been published and the exact pathophysiological mechanism remains unknown.Case presentationsA 59 year old male developed acute compartment syndrome of his right lower leg after thyroid hormone withdrawal prior to radioiodine remnant ablation after total thyroidectomy for follicular thyroid cancer. He underwent emergency fasciotomy of all four compartments of the lower leg. The muscle tissue in the anterior and lateral compartment was necrotic and was therefore excised. The second patient was a 62 year old female with Hashimoto’s thyroiditis, who developed acute compartment syndrome of both lower legs after thyroid hormone withdrawal due to non-compliance. Emergency fasciotomy of all four compartments of both legs was performed. The muscle tissue was viable in all compartments.ConclusionAlthough compartment syndrome due to hypothyroidism is uncommon, it is a complication physicians should be aware of. The majority of reported cases are caused by an acute withdrawal of thyroid hormones and not by undetected hypothyroidism. No previous case of compartment syndrome caused by an iatrogenic hormone withdrawal in preparation for radioactive iodine has been published. However, as shown in this report, it may be beneficial to inform patients of this rare complication prior to hormone withdrawal in preparation for remnant ablation after thyroidectomy.

Annals for Educators - 2 June 2020

Annals for Educators - 2 June 2020

Acute Drug-Induced Cholestatic Syndrome in Basedow Graves’ Disease

Abstract Introduction: Graves’ disease (GD), an autoimmune disorder caused by high levels of auto-antibodies against the thyroid-stimulating hormone receptor, is considered the most common cause of thyrotoxicosis, characterized by features such as goiter, ophthalmopathy and dermopathy. In our country, the administration of antithyroid drugs (ATD) is the first line of treatment in this disease. Side effects are rare but some of them, such as agranulocytosis or liver damage, may become serious. Case presentation: We report the case of a 20-year-old female patient who was diagnosed with GD after being previously diagnosed with viral hepatitis A. Treatment was initiated with methimazole 30 mg/day, and three weeks later she developed intense hepatic cytolysis and cholestatic syndrome, therefore the ATD was stopped. A suspicion of autoimmune liver disease was raised, and a liver biopsy was performed in order to establish the diagnosis. The next therapeutic option for hyperthyroidism was radioactive iodine (RAI). Three months following RAI, the patient presented severe hypothyroidism, thereupon treatment with levothyroxine was initiated. Conclusions: Although severe acute liver injury is rare, mild liver dysfunction is quite common in patients with GD. The overproduction of thyroid hormones, or the treatment with ATD through immune mediated processes or drug reactions, represent possible mechanisms responsible for liver damage.

Adequate timing and constant supervision are the keys for successful implementation of levothyroxine or levothyroxine/paracetamol absorption test

BackgroundLevothyroxine (LT4) pseudomalabsorption due to medication non-adherence results in significant costs for Health Service. High dose LT4 or LT4/paracetamol absorption test is used in such cases. Hence, establishment of an optimal test protocol and timing of sample collection is of utmost importance.Case presentationA 34-year old woman was admitted to our Department because of severe hypothyroidism [on admission thyrotropin (TSH) > 100 μIU/ml, free thyroxine (FT4) 0.13 ng/dl (ref. range 0.93–1.7)] despite apparently taking 1000 μg of LT4 a day. Autoimmune hypothyroidism had been diagnosed 4 years before during post-partum thyroiditis. Subsequently, it was not possible to control her hypothyroidism despite several admissions to two University Hospitals and despite vehement denial of compliance problems. There was no evidence of coeliac disease or other malabsorption problems, though gluten-free and lactose-free diet was empirically instigated without success. A combined paracetamol (1000 mg)/LT4 (1000 μg) absorption test was performed in one of these Hospitals. This showed good paracetamol absorption (from < 2 μg/ml to 14.11 μg/ml at 120 min), with inadequate LT4 absorption (FT4 increase from 5.95 pmol/l to 9.92 pmol/l at 0 and 120 min respectively). About 2 years prior to admission to our Department the patient was treated with escalating doses of levothyroxine [up to 3000 μg of T4 and 40 μg of triiodothyronine (T3) daily] without significant impact on TSH (still > 75 μIU/ml, and FT4 still below reference range).After admission to our Department we performed a 2500 μg LT4 absorption test with controlled ingestion of crushed tablets, strict patient monitoring and sampling at 30 min intervals. We observed a quick and striking increase in FT4 from 0.13 to 0.46, 1.78, 3.05 and 3.81 ng/dl, at 0, 30, 60, 90 and 120 min, respectively. Her TSH concentration decreased to 13.77 μIU/ml within 4 days. When informed, that we had managed to “overcome” her absorption problems, she discharged herself against medical advice and declined psychiatric consultation.ConclusionsAdequate patient supervision and frequent sampling (e.g. every 30 min for 210 min) is the key for successful implementation of LT4 absorption test. Paracetamol coadministration appears superfluous in such cases.

Hypothyroidism Presenting as Recurrent Syncopal Attacks: A Missed Diagnosis

Myxedema coma is a severe hypothyroidism which usually occurs due to long-standing, undiagnosed, or untreated hypothyroidism. Fortunately, Myxedema coma is now a rare presentation of hypothyroidism, likely due to earlier diagnosis as most of physicians are familiar with classic signs and symptoms of hypothyroidism and widespread availability of thyroid-stimulating hormone (TSH) assays. However it might be associated with several cardiac arrhythmias including; sinus bradycardia, ventricular tachycardia, and torsade de pointes. We report a case of a 53 year old female who presented with several episodes of syncope that was associated with intermittent torsade de pointes found to have severe hypothyroidism with complete reversal of her symptoms after she was started on thyroid hormonal replacement.

SAT-480 Myxedema Madness: A Rare Case of Severe Hypothyroidism Presenting as Psychosis

IntroductionMyxedema coma is a rare, life-threatening medical emergency resulting from uncontrolled hypothyroidism. Myxedema coma refers to the neurological sequelae of severe hypothyroidism, which classically manifests as depressed mental status. Rarely, myxedema coma can present with a hyperactive mental state and psychosis. We present an unusual case of a drug overdose secondary to myxedema coma-induced psychosis.Clinical CaseA 48 year old woman with a history of seizure disorder and hypothyroidism presented to the hospital after lamotrigine overdose. The patient’s spouse witnessed her ingest forty-five tablets of lamotrigine after an argument. The patient had no previous psychiatric diagnoses or suicide attempts. On examination, the patient was hemodynamically stable but was agitated, disoriented, and uncooperative. She had a normal neurologic exam and no peripheral edema. Her lamotrigine level was 25.4 ug/ml (2.5-15.0 ug/ml). The patient’s mental status did not improve with lamotrigine cessation. Psychiatry determined that the patient’s psychosis was not consistent with lamotrigine overdose. Given these recommendations, alternative causes of psychosis were considered. The patient’s husband stated she had not taken levothyroxine for over one year. Thyroid function tests revealed a thyroid stimulating hormone (TSH) of 299 mcIU/ml (0.35-5.50 mcIU/ml) with a free thyroxine (T4) level of 0.27 ng/dl (0.89-1.76 ng/gl). The patient was started on levothyroxine intravenously. After five doses of intravenous levothyroxine, her mental status improved to baseline and she was transitioned to oral levothyroxine. She denied that the lamotrigine ingestion was a suicide attempt. Based on the patient’s presentation and clinical course, we concluded that her overdose was due to severe hypothyroidism leading to myxedema madness.ConclusionSevere hypothyroidism with myxedema coma often presents with depressed mental status, which can manifest as progressive confusion, lethargy, and eventually coma. However, in the case of our patient, severe hypothyroidism presented as psychosis, a rare manifestation. Remarkably, the patient had no other obvious physical manifestations of severe hypothyroidism. Psychosis, though rare, has been seen in cases typically after thyroidectomy or in patients with previously undiagnosed Hashimoto’s thyroiditis. In this patient’s case, it is likely that her myxedema madness was precipitated by long-term nonadherence with her thyroid replacement therapy, as the patient had no prior psychiatric history. Additionally, her rapid reversal of symptoms after the administration of levothyroxine supports the diagnosis of hypothyroid-induced myxedema madness.

SUN-277 Pituitary Hyperplasia Due to Severe Primary Hypothyroidism: An Uncommon Manifestation of a Common Disease

Background Pituitary hyperplasia (PH) is a non-neoplastic increase in one or more cell subtype of the adenohypophysis. It is physiologically seen in pregnancy from resultant lactotroph hyperplasia and pathologically in organ dysfunctions that lead to loss of negative feedback on hypothalamus like primary hypothyroidism and primary adrenal insufficiency. Although primary hypothyroidism is common, PH is an under-recognized consequence of long-standing hypothyroidism. Case Description A 26-year-old female with class 3 obesity, type 2 diabetes mellitus, and primary hypothyroidism on replacement presented for evaluation of secondary amenorrhea. Two months prior to presentation, she underwent a brain MRI for new-onset headache which revealed diffusely enhancing homogenous pituitary tissue measuring 2.3 cm with upward lifting of the optic chiasm. Serum prolactin was elevated at 86.2 ng/ml (2.8-26 ng/ml). This was presumed to be secondary to a prolactinoma and cabergoline was started by the referring provider. Subsequent workup revealed elevated thyroid-stimulating hormone (TSH) at 494.11 mU/L (0.30- 4.00 mU/L) and a low free thyroxine (FT4) of 0.2 ng/dl (0.8-1.7 ng/dl). Other pituitary hormones were within normal limits. The visual field examination was normal. It was noted she had a persistently elevated TSH over the past five years. On further questioning, the patient ran out of levothyroxine replacement 6 months ago and had been generally non-adherent to therapy for years due to nausea. Improved medication adherence resulted in the normalization of prolactin and reduction in TSH level. Repeat MRI 2 months later revealed a reduction in her pituitary hyperplasia to 2.1 cm. Discussion In severe primary hypothyroidism, there is loss of negative feedback to the hypothalamus due to low circulating FT4 and triiodothyronine (T3) concentrations. As a result, there is stimulation of thyrotropin-releasing hormone (TRH) which promotes thyrotroph hyperplasia. A strong correlation exists between TSH concentration and the degree of pituitary hyperplasia. The typical MRI finding is a diffusely enhancing homogenous pituitary mass. Despite optic chiasm contact, physiologic pituitary hyperplasia rarely causes visual field defects. High concentrations of TRH stimulates prolactin release with resultant mild hyperprolactinemia. Although PH is reversible with therapy, rare cases with subsequent development of panhypopituitarism while on therapy have been reported in the setting of longstanding hypothyroidism. Very rarely, chronically untreated primary hypothyroidism can stimulate the growth of a thyrotroph adenoma. Long-term biochemical and radiological monitoring is therefore recommended until resolution. This case highlights the physiologic responses manifested in severe primary hypothyroidism and the fact that these changes improve with adequate replacement.

SAT-LB85 Use of Weekly Levothyroxine Regimen for Rapid Normalization of Thyroid Hormone Levels: A Case Report

Background: Hypothyroidism affects around 4.6% of the U.S. population1. Non-adherence with thyroid hormone replacement is one of the biggest challenges in treating hypothyroidism1. The half-life of T4 and T3 in hypothyroidism is about 7.5 and 1.4 days respectively2. A large dose once-weekly administration of levothyroxine (Lt4) is possible3, 4. Recent publications suggest that once-weekly Lt4 does not increase the risk of cardiovascular events and is well tolerated by most of patients4. Once weekly Lt4 produces similar results as daily Lt4 as evidenced by thyroid function tests3,4, and potentially improves patient compliance and satisfaction with the treatment4. Clinical Course: A 29-year-old female with a history of Hashimoto’s hypothyroidism, polycystic ovarian syndrome, depression, presented with irregular menses. Her symptoms included depression, fatigue, increased appetite. Her TSH was grossly elevated at 217 uIU/mL (0.27-4.20 uIU/mL). However upon re-visit, after increasing Lt4 to 100 mcg daily her TSH increased to 280 uIU/mL. She admitted to non-adherence with her daily Lt4 prescription. Physical exam was notable for sinus bradycardia and slow mentation, otherwise unremarkable. Blood count, basic metabolic panel and hemoglobin A1C were within normal limits. Liver function tests showed mild transaminitis, ALT 46 U/L (10-45 U/L). Lt4 was started at 875 mcg per week. At five weeks, her TSH was 6.31 uIU/mL and at seven weeks, the patient was euthyroid with a TSH of 2.53 uIU/mL. Her periods have since normalized. Conclusion: The current discourse on weekly dosing mainly focuses on its use for non-adherent patients. This case provides a clear time course also demonstrating rapid normalization of TSH using weekly dosing. Weekly Lt4 dosing as first-line therapy in noncompliant depressed patients with severe hypothyroidism should be considered. 1.Hepp, Z., Wyne, K., Manthena, S., Wang, S. and Gossain, V. (2018). Adherence to thyroid hormone replacement therapy: a retrospective, claims database analysis. Current Medical Research and Opinion, 34(9), pp.1673-1678.2.Colucci, P., Yue, C., Ducharme, M. and Benvenga, S. (2010). A Review of the Pharmacokinetics of Levothyroxine for the Treatment of Hypothyroidism. European Endocrinology, 9(1), p.40.3.Jayakumari, C., Nair, A., Puthiyaveettil Khadar, J., Das, D., Prasad, N., Jessy, S., Gopi, A. and Guruprasad, P. (2019). Efficacy and Safety of Once-Weekly Thyroxine for Thyroxine-Resistant Hypothyroidism. Journal of the Endocrine Society, 3(12), pp.2184-2193.4.Rajput, R. and Pathak, V. (2017). The Effect of Daily versus Weekly Levothyroxine Replacement on Thyroid Function Test in Hypothyroid Patients at a Tertiary Care Centre in Haryana. European Thyroid Journal, 6(5), pp.250-254.

SAT-487 Untreated Primary Hypothyroidism Presenting as Pica with Concurrent Hyponatremia and Rhabdomyolysis

Background:Psychosis is a rare but known presentation of hypothyroidism, whereas other mental health disorders are less commonly associated. Pica, the consumption of non-nutritive, non-food substances, has not been reported to be associated with hypothyroidism. We describe a case of untreated severe hypothyroidism in which the patient presented with pica that reversed with treatment with levothyroxine.Clinical case:A 65-year-old female with a history of cigarette smoking and chronic marijuana use was brought to the emergency department by family after she was found attempting to eat non-food objects such as pens and a toothbrush. She reported new onset unsteady gait and having frequent falls over the past several months in addition to being increasingly forgetful. She complained of fatigue and reported recent unintentional weight loss, but denied cold intolerance, skin or hair changes, or constipation. On admission, she was noted to be hypothermic with body temperature between 94-95 degrees Fahrenheit. Physical examination was essentially unremarkable with normal thyroid size and reflexes. No pretibial edema was noted. Admission labs showed hemoglobin of 14.0 g/dL with a white cell count of 8000 cells/uL, without evidence of anemia or infection. Sodium was low at 123 mmol/l and creatinine kinase was elevated at 989 U/L which peaked at 1356 U/L during her admission. CT of the head was negative for any acute intracranial process. Further workup was significant for TSH 85.6 mIU/L (0.27-4.20 mIU/L), free T4 <0.1 ng/dL (0.80-1.90 ng/dL), total T4 0.7 mcg/dL (5.1-11.9 mcg/dL), total T3 < 25 ng/dL (76-181 ng/dL), and TPO antibody 416 IU/ml (<9 IU/ml). AM cortisol was 27.0 ug/dL (6.2-19.4 ug/dL) at 8 AM, ruling out hypocortisolemia. The patient had not seen a medical provider in 10 years, had no recent health maintenance, and had no prior known history of thyroid disease. She was given IV fluids and started on oral levothyroxine 100 mcg daily due to the severity of hypothyroidism. Her sodium improved to 130 mmol/l over the next 4-5 days. Mental status returned to baseline with improvement in memory function and in gait and balance. Creatinine kinase trended down to 688 U/L over the next 2 days. She did not exhibit any additional behavior of eating non-food objects during the hospital stay. Patient was diagnosed to have severe hypothyroidism presenting as pica along with hyponatremia and rhabdomyolysis. Patient was discharged on levothyroxine 75 mcg daily.Clinical lessons/conclusions:Hyponatremia, rhabdomyolysis, and psychosis are relatively uncommon but known reported complications of untreated primary hypothyroidism. Acute psychosis has been reported as a presenting feature of undiagnosed hypothyroidism, but hypothyroidism presenting as pica as seen in our patient is extremely rare. This case highlights the importance of screening for hypothyroidism in patients presenting with unexplained pica.

MON-474 Coexistence of Thyroid Dysgenesis and Premature Ovarian Failure: A Case Report

Background. Congenital hypothyroidism (CH) secondary to thyroid dysgenesis is rare. It may present with ascites and short stature. Primary ovarian failure (POF) is most commonly associated with autoimmune thyroid diseases1. However, there is no report of the association of POF with congenital hypothyroidism. Clinical case. A 30 year old female presented with increasing abdominal girth, short stature and arrest of menstruation at 27 years old. Newborn screening was not done. Developmental milestones were at par. She had a low timber voice and was slow to respond. Her skin was rough and dry. Her hair was sparse, and she had thin eyebrows. Her tongue was not enlarged. Her abdomen was globular with a positive fluid wave test and shifting dullness. Initial tests indicated a hypothyroid state: elevated TSH (50.40 IU/mL, N=0.35-4.94 IU/mL), low FT4 (0 pmol/L, N=12-22 pmol/L). Ultrasound of the thyroid suggests thyroid dysgenesis (small right thyroid gland measuring 1.4 x 0.2 x 0.4 cm and an absent left thyroid gland). Karyotyping was 46, XX and insulin growth factor 1 was normal. Unexpectedly, further tests were consistent with a concomitant primary ovarian failure: low estradiol (5 pg/mL, N=12.4-233 pg/mL), high FSH (112.7 mIU/mL, N=3.5-12.5 mIU/mL) and LH (61.9 mIU/mL, N = 2.4-12.6 mIU/mL). Chest radiography showed left pleural effusion. Abdominal CT scan showed marked ascites with normal reproductive organs. Anti-TPO antibodies were normal (4.87 IU/mL, N=0-25 IU/mL). The patient was treated with Levothyroxine 50 mcg daily then gradually increased to 100 mcg daily. She was given Spironolactone 50 mg daily and paracentesis was also done to address ascites. The patient had improvement of symptoms after a month of treatment. However, the etiology of POF remains to be further elucidated. Conclusion. This case report emphasizes the importance of the early detection of congenital hypothyroidism through newborn screening. Severe hypothyroidism is rarely seen due to the wide availability of the TSH assay and its diagnosis should instigate further work-up for its etiology. Concomitant premature ovarian failure in the absence of an autoimmune thyroid disorder should prompt further investigation for another etiology since premature ovarian failure is not commonly associated with congenital hypothyroidism. Reference: (1) Ayesha, Jha V, Goswami D. Premature Ovarian Failure: An Association with Autoimmune Diseases. J Clin Diagn Res. 2016;10(10):QC10-QC12.

Hypothyroidism and Non-Alcoholic Fatty Liver Disease

Data supporting an association between primary hypothyroidism and non-alcoholic fatty liver disease (NAFLD) is lacking. Thyroid hormones are totally involved in the regulation of body weight, lipid metabolism, and insulin resistance. Therefore, thyroid hormones may have a role in the pathogenesis of NAFLD and nonalcoholic steatohepatitis (NASH). The results of studies investigating the association between NAFLD and thyroid dysfunction have been inconsistent; many have provided data supporting the association, while a few others have refuted it. This report presents the case of a 56-year-old obese Hispanic man who was diagnosed with liver cirrhosis secondary to NAFLD and presented 3 months later with severe hypothyroidism. J Endocrinol Metab. 2020;10(2):45-48 doi: https://doi.org/10.14740/jem644