7 week-old Female Infant with Hypothyroidism. Katie O Sullivan, M.D. Fellow, Adult/Pediatric Endocrinology Endorama Thursday, March 20 th, 2014

Transcription

1 7 week-old Female Infant with Hypothyroidism Katie O Sullivan, M.D. Fellow, Adult/Pediatric Endocrinology Endorama Thursday, March 20 th, 2014

2 Chief Complaint 7 week-old female with abnormal thyroid function tests

3 History of Present Illness Full-term infant delivered after normal pregnancy found to have abnormal newborn screen 7 days of life: TSH = 62.4 mcu/ml (nl ) T4 = 11.1 mcg/dl (nl ) Free T4 = 1.42 ng/dl (nl ) 10 days of life: Started 37.5mcg LT4 daily (=12.5mcg/kg/day).

4 History Pregnancy History: Normal No maternal exposures to medications/drugs. No maternal medical conditions Birth History: Routine vaginal delivery BW: 6lb 10oz (3.005kg), AGA Family History: No thyroid disease Mother, 16 yo: Mexican descent Father, 19 yo: Mexican-Polish descent

5 Review of Systems HEENT: Negative for hoarse cry, large fontanel, macroglossia. No neck mass. No dysphagia. Respiratory: Negative for cough or shortness of breath. Cardiovascular: Negative for fatigue with feeding. Gastrointestinal: Negative for abdominal pain, nausea, vomiting, diarrhea, constipation, or umbilical hernia. Genitourinary: Negative for polyuria. Musculoskeletal: Negative for edema. Skin: Mild perinatal jaundice, improved. Neurological: Negative for excessive sleepiness, low tone.

6 Physical Exam Vitals: P 100 bpm HEET: Anterior fontanelle open, flat, not enlarged. Anicertic sclera, PERRL. Palate normal. No dysmorphic facies. Neck: No palpable thyroid tissue. CV: RRR, no m, no edema, no cyanosis. Resp: CTAB, no retractions. Abd: Soft, non-distended, non-tender, normal active bs. No umblical hernia. Skin: No dry skin, no rash, no jaundice. Extremities: No limb abnl, no palmar crease Neuro: Normal tone, moving all limbs actively.

7 Laboratory Studies 7 days 7 weeks TSH (nl mcu/ml) Total T (nl mcg/dl) Free T FTI 16.9 (nl *) LT4 dose None 37.5 mcg daily * Adult range

8 Differential Diagnosis

9 Differential Diagnosis: high TSH, nl T4 Permanent Primary Hypothyroidism Thyroid dysgenesis = 80-85% Athyreosis Ectopic Thyroid Thyroid dyshormonogenesis = 15-20% TSH resistance Iodide Transport Defect Peroxidase System Defects Thyroglobulin Synthesis Defects Iodotyrosine Deiodinase Defect Thyroid Hormone Transporter Defect Transient Congenital Hypothyroidism Maternal autoimmune thyroid disease/ anti-thyroid medications Endemic iodine deficiency Transient neonatal TSH surge Italics = goiter present

10 Next Step in Diagnosis/Treatment?

11 Thyroid Ultrasound at 7 months

12 Next Step in Diagnosis?

13 Nuclear Imaging at 4 yr 6 mo

14

15 Clinical Questions What is the defect in embryology that results in ectopic thyroid glands? What is the appropriate management for patients with ectopic thyroid glands? What is the risk of thyroid cancer in patients with ectopic lingual thyroid glands?

16 Embryology of Thyroid Glands Sedgwick CE, Cady B. 1980

17 Embryology of Thyroid Glands Thyroid diverticulum Ultimobrachial bodies Transcription Factors: 1) TTF-1 (NKX 2.1) 2) TTF-2 (FOXE1) Thyroid 3) PAX8 From Paolo E. Macchia, Thyroid Disease Manager

18 Thyroid Dysgenesis Increased Incidence: Females Hispanic > Caucasians > African Americans Down Syndrome Most cases occur sporadically Monogenic or suspected polygenic disease with variable penetrance (TTF-1, TTF-2, PAX8)

19 Ectopic Thyroid Glands Prevalence 1:10,000 Most common sites: Lingual thyroid Wall of thyroglossal duct 1/3 have hypothyroidism Undergo same pathologic processes: Inflammation Hyperplasia Tumorigenesis Klubo-Gwiezdzinska et al. JCEM 2011.

20 Treatment of Lingual Thyroid Asymptomatic: Euthyroid: Monitoring +/- LT4 Hypothyroid: LT4 Compressive symptoms: LT4 RAI Surgical Removal Howard et al. Annals of Otology, Rhinology & Laryngology Dziegielewski et al. Journal of Otolaryngology

21 Dziegielewski et al. Journal of Otolaryngology

22 Lingual Thyroid Cancer Rare, only 400 reported cases Typically develops in 3 rd decade Follicular > Papillary >> Medullary Treatment: Surgical Excision Klubo-Gwiezdzinska et al. JCEM 2011.

23 Other Ectopic Thyroid Carcinoma Thyroglossal Duct Cyst Carcinoma Ectopic Intratracheal Thyroid Cancer (EITC) Midline Ectopic Thyroid Cancer Lateral Neck Ectopic Cancer Branchial Cleft Cyst Ectopic Thyroid Cancer

24 Summary Ectopic thyroid tissue results from disruption in primordial thyroid descent Ectopic thyroid tissue may result from mutations in TTF-1, TTF-2, and PAX8 Treatment of lingual thyroid depends on extent of compressive symptoms Ectopic thyroid tissue undergoes the same pathologic processes as normal thyroid tissue Thyroid carcinoma is rare in ectopic thyroid tissue, especially in lingual thyroid

25 Works Cited AAP. Update of Newborn Screening and Therapy for Congenital Hypothyroidism Dziegielewski et al. Lingual thyroid in adults: management algorithm based on swallowing outcomes. Journal of Otolaryngology 2011; 40(1): Gonciulea et al. Lingual thyroid. Endocrine. E-published November 23, Howard et al. Lingual Thyroidectomy: The Mayo Clinic experience with transoral laser microsurgery and transoral robotic surgery. Annals of Otology, Rhinology & Laryngology (3) Klubo-Gwiezdzinska et al. Ectopic cervical thyroid carcinoma review of the literature with illustrative case series. JCEM : Lifshitz, Fima. Pediatric Endocrinology, 5 th Ed. Volume 2. Informa Healthcare, New York, NY Sedgwick CE, Cady B: Surgery of the Thyroid and Parathyroid Glands, 2d ed. Philadelphia, WB Saunders, 1980, p 7. ThyroidManager.org