Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening

Special Article - Hypothyroidism

Annals Thyroid Res. 2017; 3(1): 95-101.

Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening

Rosenthal NA1, Bezar E2, Mann S3, Bachrach LK4, Banerjee S5, Geffner ME6, Gottschalk M7, Shapira SK8, Hasegawa L3 and Feuchtbaum L1*

1California Department of Public Health, Genetic Disease Screening Program, USA

2Public Health Foundation Enterprises, USA

3Hawai’i Department of Health Genetics Program, USA

4Lucile Salter Packard Children’s Hospital, Stanford School of Medicine, USA

5Valley Children’s Hospital, USA

6Children’s Hospital Los Angeles, USA

7UCSD School of Medicine, USA

8Centers for Disease Control and Prevention, USA

*Corresponding author: Lisa Feuchtbaum, California Department of Public Health, Genetic Disease Screening Program, Richmond CA 94804, Dr. PH, MPH. 850 Marina Bay Parkway, F-175, Richmond, CA 94804, USA

Received: March 17, 2017; Accepted: April 03, 2017; Published: April 18, 2017


Objective: To assess Primary Congenital Hypothyroidism (CH) management patterns and feasibility of providing long-term care for patients with CH identified through newborn screening by Primary Care Providers (PCPs) in California and Hawaii.

Study Design: A survey was mailed to all physicians (N=823) listed as the referral doctor for confirmed patients with CH identified through newborn screening programs in both states between 01/01/2009–12/31/2013. Information was collected on CH management patterns, barriers to providing care, and knowledge on CH treatment. Descriptive statistics and bivariate logistic regression results were reported.

Results: 206 PCPs completed the survey. Among these, 78% currently have patients with CH and 91% indicated willingness to provide long-term care to new patients with CH. Among PCPs currently caring for patients with CH, 17% managed CH by themselves with limited assistance from endocrinologists; 63% were involved in managing CH but endocrinologists played a larger role than PCPs; 19% were not involved in CH care. Only 49% of PCPs correctly answered questions regarding recommended follow-up frequencies and 23% knew the correct age for a trial off levothyroxine for suspected transient CH. Top two perceived barriers to providing long-term care included “need guidance or support from endocrinologists” (61%) and “not familiar with CH treatment guidelines” (28%).

Conclusion: The majority of PCPs surveyed are willing to provide long-term care to patients with CH, but need support from endocrinologists and increased knowledge about current treatment guidelines.

Keywords: Congenital hypothyroidism; Primary care; Management; Newborn screening


CH: Primary Congenital Hypothyroidism; NBS: Newborn Screening; LTFU: Long-Term Care and Follow-Up; PCP: Primary Care Providers; AAP: American Academy of Pediatrics; CME: Continuing Medical Education


Primary Congenital Hypothyroidism (CH) is the most common preventable cause of neurocognitive disability (mental retardation) [1] and is the most common disorder diagnosed through Newborn Screening (NBS) [2]. CH affects about 1 in 2000 California newborns and 1 in 3000 Hawaii newborns, with over 245 new cases diagnosed in both states each year [2,3] CH refers to thyroid hormone deficiency due to dysfunction of the thyroid gland. About 80%?85% of permanent CH cases are caused by developmental failure or maldevelopment of the thyroid gland (i.e., aplasia, hypoplasia, or ectopia). Other permanent cases are caused by an inherited enzyme deficiency affecting synthesis of thyroid hormone (dyshormonogenesis) or a thyrotropin receptor defect [1,4]. Although early detection and initiation of treatment within the newborn period have nearly eradicated severe mental disabilities among patients with CH in countries with NBS, unfavorable clinical outcomes are still present in a subset of patients [5]. CH severity and treatment inadequacy have been associated with a lower Intellectual Quotient (IQ) [6-9], lower educational attainment [10-12], and sensorineural hearing loss [10,13,14]. Patients with severe or inadequately treated CH also have increased risk of congenital malformations (e.g., anomalies of cardiac and nervous system and eyes), obesity [10,15-18], and impaired growth, puberty, and fecundity [19-22]. These findings highlight the importance of adequate treatment and monitoring to maintain optimal thyroid function throughout life to ensure the best neuro developmental, physical, and social outcomes in patients with CH.

Specific diagnostic, treatment, and follow-up guidelines for children with CH have been published by both the American Academy of Pediatrics (AAP) and the European Society for Paediatric Endocrinology [23,24]. Both guidelines recommend frequent followups during childhood. However, a U.S. study using both public and private health insurance data found that over one-third of patients with CH discontinued treatment by three years of age [25]. Although the precise incidence of transient hypothyroidism is unknown (recent estimates range from 13.5%to 54.5% [26-28]), the authors of the analysis suggested that most cases of treatment discontinuation were likely not transient, but parent-initiated without physician supervision [23,25,27]. A follow-up study of patients with CH detected by the Michigan NBS Program showed that 25% of the patients were no longer being treated by three years of age, among which 83% had stopped treatment without medical supervision [29]. Of those who underwent a medically-supervised trial off medication, treatment was resumed in 87% of the cases [29]. These data suggest that discontinuation of treatment without medical supervision is a problem that could result in suboptimal outcomes for many patients. Due to the paucity of long-term follow-up data from the United States, it is unclear how patients with CH are being managed as they age and the potential adverse effects of inadequate treatment or premature discontinuation of levothyroxine treatment.

In both California and Hawaii, patients who screen positive for CH in state NBS programs are usually referred by their Primary Care Providers (PCPs) to endocrinologists for further testing and confirmatory diagnosis. In California, a large percent of screen positive patients are referred to state-contracted endocrine centers to provide follow-up care. However, feedback from endocrinologists indicated that these centers usually do not have the resources needed to follow every patient with CH as frequently as recommended by the AAP guidelines, especially during the first three years of life, when treatment adherence is most critical. Furthermore, it is often more practical and convenient for patients with CH to receive care from their PCPs who are usually in closer proximity and more readily available, especially in rural areas where fewer endocrinologists are available [30]. Parks et al found that in Texas during 2004-2006, 64% of patients with CH were followed and reported by endocrinologists in the first year of life and the proportion decreased to 26% in the second year of life. Underreporting from endocrinologists might exist, but these findings indicated that some patients might be followed by primary care pediatricians [31]. The AAP-recommended CH follow-up visits can be completed during routine well-baby visits. Endocrinologists can serve as consultants after the initial evaluation of the case is completed and provide guidance about modifying treatment when questions arise. The consensus is that PCPs should take more responsibility for providing long-term care and encouraging adherence to treatment for patients with CH with the support and consultation from pediatric endocrinologists.

These recommendations are consistent with the patient-centered medical home model for providing primary care that has been widely endorsed by physicians’ associations, including the AAP and the American Academy of Family Physicians [32]. Studies have shown that, for children and youth with special health-care needs, care provided through a medical home is associated with better care coordination, higher satisfaction with care, and fewer emergency room visits or hospitalizations [33-36]. Compared to metabolic disorders screened for by NBS, CH is easier to manage since it primarily involves the administration of a single drug. Thus, with proper training, the locus of the medical home can be with the PCP when that provider is supported by apediatric endocrinologist for challenging and more nuanced cases. Increased PCP involvement and “ownership” of care for patients with CH would likely improve quality of care, disease management and health outcomes. Understanding the hurdles impeding management of children with CH by pediatricians and whether it is feasible to shift the Long-Term Follow-Up (LTFU) responsibility to PCPs with support from pediatric endocrinologists will strengthen the medical home for these patients.

The purpose of this study was four-fold: 1) to evaluate the current CH case management patterns; 2) to assess the willingness and capability of PCPs to provide LTFU for patients with CH; 3) to identify potential barriers for PCPs to provide LTFU to patients with CH; and 4) to assess PCPs’ willingness to obtain informed consent and provide data to an existing database to evaluate quality of care and patient outcomes for possible research endeavors in the future.


A cross-sectional survey of PCPs was conducted from February through June of 2014. All PCPs who were listed as the referral doctors for at least one patient with CH born between 2009-2013 were selected from the California and Hawaii NBS databases. A total of 801 physicians from California and 22 physicians from Hawaii were invited to participate in the study.

The survey included five key components relevant to PCPs: 1) current practice in managing patients with CH; 2) barriers and resources needed to conduct CH LTFU; 3) willingness and capability to conduct CH LTFU; 4) willingness and capability to obtain informed consent from patients and provide data to a LTFU database; and 5) clinical outcomes of patients with CH being seen by the PCPs. Results of the fifth component will be reported in a future paper. To maximize response rate, we included a personalized cover letter in the surveymailing packet that described the significance and objectives of the study. To better understand the reasons for non-response, we asked each doctor who was unable to complete the questionnaire to indicate reasons for non-response on a separate “Non-Response Card” enclosed with the initial mailing. A gift card incentive was offered to PCPs who completed either the full survey or the non-response card. An on-line version of the same survey was also made available at the same time. One hundred and thirteen mailing packets were returned as undeliverable after the initial mailing. We were able to obtain their most up-to-date addresses through multiple modes (e.g., internet search and calling the listed offices) for 87 doctors and resent the packets. We failed to find usable addresses for 26 doctors and they were excluded from the response rate calculation. Additionally, we sent out two reminder letters to non-responding PCPs, one and two months after the initial mailing, to boost the response rate.

All data were analyzed using SAS version 9.3 for Windows (SAS Institute, Cary, NC). Continuous variables were expressed as medians with range and categorical variables were presented as numbers and percentages. Descriptive statistics were calculated and the differences between the two states were assessed using Chi-square and Fisher’s exact tests for categorical variables and Wilcoxon Signed Rank Test for continuous variables to compare the difference in medians. Bivariate logistic regression modeling was used to assess the association between selected covariates and key outcome variables. Crude Odds Ratios (ORs) and their 95% Confidence Intervals (CIs) were reported. This study was approved by the State of California, Health and Human Services Agency, Committee for the Protection of Human Subjects, Project Number 13-08-1317.


Response rates and demographics

A total of 238 doctors in California and 10 doctors in Hawaii responded to the mailing, among whom 226 completed the survey (128 paper surveys and 98 on-line surveys) and 19 returned the Non- Response Card (Figure 1). Among doctors who completed the survey, 20 were not PCPs and their responses were excluded from the final analysis. The total response rate was 28% for California doctors and 45% for Hawaii doctors. Among the 19 doctors/offices that returned the Non-Response Card and indicated a reason for not completing the survey, four did not have time to do the survey, seven were specialists instead of PCPs, six did not have patients with CH, one doctor was deceased, and one had security concerns.