scholarly journals SAT-520 Unusual Case of Hypothyroidism Possibly Due to Dialysis Leading to Van Wyk Grumbach Syndrome (VWGS)

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jenice Chummar ◽  
Parissa Salemi
Keyword(s):  
Renal Transplantation ◽  
Thyroid Hormone ◽  
Precocious Puberty ◽  
Chronic Renal Disease ◽  
Early Recognition ◽  
Hormone Replacement ◽  
Brain Mri ◽  
Central Precocious Puberty ◽  
Primary Hypothyroidism ◽  
Poor Growth

Abstract BACKGROUND: Van Wyk Grumbach Syndrome (VWGS) is characterized by precocious central puberty in the setting of juvenile chronic primary hypothyroidism with symptom regression following thyroxine replacement. Clinical Case: A 2 year old girl with dysplastic kidneys and chronic renal disease had been treated by her nephrologist with growth hormone for poor growth. She was referred to Endocrinology for evaluation of bloody dialysate thought to be retrograde menstrual flow. Pelvic US showed bilateral large cystic adnexae possibly ovarian cysts versus septated collections of dialysate fluid. Hormone measurements showed pubertal levels of LH 0.4mIU/mL and FSH 5.4mIU/mL, with a relatively low Estradiol 5.3pg/mL. Brain MRI showed impressive pituitary enlargement measuring 1.3cm craniocaudally. Additional laboratory testing was notable for a low normal free T4 fT4 0.9ng/dL and markedly elevated TSH>1000uIU/mL and Prolactin 835ng/mL. Thyroid US showed thyroid enlargement, and echogenic and hyper vascular gland. Anti-thyroid antibodies titers were normal, AM cortisol and IGF1 were also normal for age. We speculate that this case of profound hypothyroidism was due to dialysis, as thyroid function improved after the child underwent renal transplantation. Levothyroxine was discontinued 5 months after renal transplantation. Elevated TSH may induce a form of pseudopuberty as the TSH alpha subunit is similar to that of LH and binds to the LH receptor to stimulate the ovaries with cyst formation. Conclusion: In VWGS, primary hypothyroidism with elevated TSH induces central precocious puberty. This child’s bloody diasylate was likely the result of transient central precocious puberty associated with uncontrolled primary hypothyroidism with elevated TSH and prolactin. Although the literature on dialysis suggests minimal thyroid hormone losses, this case shows the importance of monitoring thyroid hormones in dialysis patients. Early recognition of VWGS and initiation of thyroid hormone replacement can lead to resolution of symptoms.

scholarly journals SUN-725 Clinical and Genetic Features of Families with Maternally Inherited Central Precocious Puberty

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Flávia Rezende Tinano ◽  
Ana Pinheiro Machado Canton ◽  
Luciana Ribeiro Montenegro ◽  
Andrea de Castro Leal ◽  
Carolina Ramos ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Association Studies ◽  
Brain Mri ◽  
Family Members ◽  
Central Precocious Puberty ◽  
Breast Development ◽  
Female Group ◽  
Genome Wide Association Studies ◽  
Abnormal Gait ◽  
Genetic Features

Abstract Context: The clinical recognition of familial central precocious puberty (CPP) has significantly increased in the last years. This fact can be related to the recent descriptions of genetic causes associated with this pediatric condition, such as loss-of-function mutations of two imprinted genes (MKRN3 and DLK1). Inherited defects in both genes cause paternally inherited CPP. However, no genetic abnormality has been described in families with maternally inherited CPP so far. Objectives: To characterize the clinical and genetic features of several families with maternally inherited CPP. Setting and Participants: We analyzed clinical and genetic features of children with familial CPP. No brain MRI alterations were detected in the selected patients with CPP. MKRN3 and DLK1 pathogenic mutations were excluded. Whole-exome sequencing was performed in selected cases. Results: We studied 177 children from 141 families with familial CPP. Paternal inheritance was evidenced in 44 families (31%), whereas 58 (41%) had maternally inheritance. Indeterminate inheritance was detected in the remaining families. Maternally inherited CPP affected mainly female patients (69 girls and two boys). Thelarche occurred at mean age of 6.1 ± 1.9 years in this female group. Most of girls had Tanner 3 (41%) and Tanner 4 (35%) breast development at first evaluation. One boy had additional syndromic features (macrosomia, autism, bilateral eyelid ptosis, high arcade palate, irregular teeth and abnormal gait). The pedigree analysis of patients with maternally inherited CPP revealed the following affected family members: 42 mothers, 10 grandmothers, 11 sisters, 12 aunts, and 11 female cousins. Most of the families (41) had two affected consecutive generations, while eight families had three affected generations. No consanguinity was referred. Ongoing molecular analysis revealed two rare heterozygous variants in the boy with syndromic CPP and three affected family members with precocious menarche (mother, maternally half-sister, and maternally aunt): a frameshift deletion (p.F144fs) in MKKS; and a missense variant (p.P267L) in UGT2B4, which encodes a protein involved in estrogen hydroxylation and it was related to menarche timing in genome-wide association studies. Conclusions: Maternally inherited CPP was diagnosed mainly in girls, who had thelarche at mean age of 6 years old. Dominant pattern of inheritance was more prevalent, with direct maternal transmission in 72% of the studied families. New candidate genes might be implicated with maternally inherited CPP.

Twice-Weekly Dosing for Thyroxine Replacement in Elderly Patients with Primary Hypothyroidism

1994 ◽  
Vol 22 (5) ◽  
pp. 273-277 ◽  
Author(s):  
J Taylor ◽  
B O Williams ◽  
J Frater ◽  
D J Stott ◽  
J Connell
Keyword(s):  
Thyroid Hormone ◽  
Elderly Patients ◽  
Hormone Replacement ◽  
Systolic Time Intervals ◽  
Serum Levels ◽  
Primary Hypothyroidism ◽  
Time Intervals ◽  
Thyroxine Therapy ◽  
Total Triiodothyronine ◽  
Systolic Time

Seven female patients (mean age 86 years) with proven biochemical primary hypothyroidism were enrolled in a single-blind randomized crossover study, of standard daily versus twice-weekly thyroxine therapy, with each phase of one month's duration. The median daily dose of thyroxine was 100 μg (range 75 – 100 μg). Serum levels of thyroid hormones and thyrotrophin were very similar during twice-weekly thyroxine therapy to those during daily therapy and there were no statistically significant differences between trough and peak serum total triiodothyronine, free thyroxine, or thyrotrophin levels or systolic time intervals during twice-weekly thyroxine. Administration of thyroxine twice-weekly to elderly patients with primary hypothyroidism gives effective biochemical thyroid hormone replacement, with no evidence from the systolic time intervals of tissue thyrotoxicosis at expected peak thyroid hormone concentrations. Supervised twice-weekly thyroxine should be considered in patients with primary hypothyroidism who comply poorly with daily dosing.

scholarly journals Effect of Adequate Thyroid Hormone Replacement on the Hypothalamo-Pituitary-Gonadal Axis in Premenopausal Women with Primary Hypothyroidism

2019 ◽  
Vol 8 (3) ◽  
pp. 152-158
Author(s):  
Bharath Bachimanchi ◽  
Suresh Vaikkakara ◽  
Alok Sachan ◽  
Ganji Praveen Kumar ◽  
Ashok Venkatanarasu ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Replacement ◽  
Premenopausal Women ◽  
Primary Hypothyroidism ◽  
Thyroid Hormone Replacement

scholarly journals SUN-281 Pituitary Hyperplasia Secondary to Uncontrolled Primary Hypothyroidism

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jessica Lee Betancourt
Keyword(s):  
Pituitary Gland ◽  
Early Recognition ◽  
Hormone Replacement ◽  
Primary Hypothyroidism ◽  
Laboratory Evaluation ◽  
Complete Regression ◽  
Pituitary Macroadenoma ◽  
Free T4 ◽  
Pituitary Hyperplasia ◽  
Patient Reported

Abstract Background: There are several recognized causes of hyperplasia of the pituitary gland. These may present as sellar masses and be misdiagnosed as pituitary adenomas. Pituitary hyperplasia can occur in the presence of long standing primary hypothyroidism due to the loss of negative feedback caused by decreased secretion of thyroxine (T4) and triiodothyronine (T3) by the thyroid gland, leading to excessive thyrotropin releasing hormone (TRH) production by the hypothalamus causing Thyrotroph pituitary hyperplasia Clinical case: 51 y/o female with a past medical history that includes anxiety & depression, obesity, pre-diabetes and uncontrolled hypothyroidism due to Hashimoto’s, presented to the Endocrinology clinic for recent diagnosis of pituitary macroadenoma. Patient reported tiredness, decrease energy, myalgias, weight gain, abnormal menstrual periods and frontal headaches. On physical exam, she had a body mass index of 37.39kg/m2, blood pressure of 130/85mmHg, heart rate of 91 bpm. There was no thyromegaly noted on exam. No abdominal striae was noted. Overall, exam was unremarkable. Her neurological exam was normal and there were no obvious visual field deficits. Initial laboratory tests revealed a thyroid stimulating hormone (TSH) >150 uIU/mL (0.46–4.7 uIU/mL), free T4 0.3 ng/dL (0.7–1.3 ng/dL) and positive TPO antibodies. Other endocrine work up including ACTH, cortisol, prolactin, FSH, LH and IGF-1, were normal. An MRI of the pituitary revealed a heterogeneous enhancing mass replacing the pituitary gland in the sella that measured 16 x 17 x 11 mm. She was evaluated by Neurosurgery, for presumed diagnosis of pituitary macroadenoma. However, prompt recognition of uncontrolled primary hypothyroidism causing pituitary hyperplasia lead to medical management, first. She was started on weight based (1.6mcg/kg/day) levothyroxine at 175 mcg per day. Six weeks after thyroid replacement therapy laboratory evaluation showed improvement in thyroid function test with a TSH of 0.8mIU/mL, free T4 2.8ng/dL and total T3 307ng/dL. A repeat MRI of the pituitary showed decrease in size of the pituitary gland measuring 15 x 4 x 10 mm. Conclusion: This case illustrates the importance of early recognition of uncontrolled primary hypothyroidism during the evaluation of a pituitary mass. Complete regression of this pituitary gland abnormality can be achieved with thyroid hormone replacement avoiding the irreversible consequences of inappropriate pituitary surgery.

scholarly journals Effects of thyroid hormones on thermogenesis and energy partitioning

2018 ◽  
Vol 60 (3) ◽  
pp. R157-R170 ◽  
Author(s):  
K Alexander Iwen ◽  
Rebecca Oelkrug ◽  
Georg Brabant
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Cold Exposure ◽  
Energy Homeostasis ◽  
Current Knowledge ◽  
Hormone Replacement ◽  
Primary Hypothyroidism ◽  
The Central Nervous System ◽  
Primary Hyperthyroidism ◽  
Peripheral Cells

Thyroid hormones (TH) are of central importance for thermogenesis, energy homeostasis and metabolism. Here, we will discuss these aspects by focussing on the physiological aspects of TH-dependent regulation in response to cold exposure and fasting, which will be compared to alterations in primary hyperthyroidism and hypothyroidism. In particular, we will summarise current knowledge on regional thyroid hormone status in the central nervous system (CNS) and in peripheral cells. In contrast to hyperthyroidism and hypothyroidism, where parallel changes are observed, local alterations in the CNS differ to peripheral compartments when induced by cold exposure or fasting. Cold exposure is associated with low hypothalamic TH concentrations but increased TH levels in the periphery. Fasting results in a reversed TH pattern. Primary hypothyroidism and hyperthyroidism disrupt these fine-tuned adaptive mechanisms and both, the hypothalamus and the periphery, will have the same TH status. These important mechanisms need to be considered when discussing thyroid hormone replacement and other therapeutical interventions to modulate TH status.

Sign in / Sign up

Export Citation Format

Share Document