Indian J Pediatr DOI 10.1007/s12098-014-1501-9
SCIENTIFIC LETTER
Congenital Hypothyroidism Associated with Congenital Diaphragmatic Hernia Birendra Rai & Abhidhamma Kaninde & Sudha Moka & Muhammad Ali
Received: 10 February 2014 / Accepted: 22 May 2014 # Dr. K C Chaudhuri Foundation 2014
To the Editor: A female infant was born by normal delivery at full term with birth weight of 2.95 kg. The antenatal period was uneventful except mild polyhydramnios that resolved in repeat scan done after two weeks. Baby was vigorous at birth with Apgar’s of eight and nine at one and five minutes respectively. She developed respiratory distress at four hours of age and chest radiograph revealed left sided diaphragmatic hernia with moderate shift of the mediastinum to the right side (Fig. 1). Subsequently, she was intubated and commenced on mechanical ventilation. She underwent surgical repair of diaphragmatic hernia at 12 h of age. Post-operative recovery was uneventful. Blood taken for newborn screening by heel prick on day 5 of life revealed high thyroid stimulating hormone (TSH) with value 43 mU/L. Subsequent thyroid function tests (TFT) revealed total T4 and TSH levels as 8 mcg/dL and 51 mU/L respectively. Ultrasound of the neck could not localise thyroid gland. One hundred twenty-three Iodine Radionuclide thyroid scan performed on day eight of life showed zero uptake at neck. She was commenced on thyroxin supplement immediately. Free T4 and TSH levels normalised after 3 wk of commencement of therapy. Cytogenetic study revealed normal female karyotype and DNA microarray did not reveal any genetic mutation.
Congenital hypothyroidism (CH) is the most common cause of preventable intellectual disability in pediatric population. Its incidence has been cited around 1:4000 in several studies [1]. CH has been associated with various congenital malformations with cardiac being the most common [2]. Associations of CH, mainly of syndromic varieties, have also been sought with various renal, urologic, skeletal, gastrointestinal, and neurological (ataxia) abnormalities [3–5]. Though neonatal respiratory distress has been ascribed as an association of congenital hypothyroidism by Doyle et al., our extensive literature search could not reveal any case or incidence of Congenital diaphragmatic hernia (CDH) associated with congenital hypothyroidism, though umbilical hernia is a commonly reported finding in CH. Few genetic
B. Rai (*) Department of Pediatrics, Midland Regional Hospital, Mullingar, Ireland e-mail: [email protected] A. Kaninde Department of Pediatrics, Cork University Hospital, Cork, Ireland S. Moka Department of Neonatology, Midland Regional Hospital, Mullingar, Ireland M. Ali Department of Neonatology, Wishaw General Hospital, Wishaw, UK
Fig. 1 Radiograph chest showing herniation of abdominal contents into left hemithorax with mediastinal shift to the right (Congenital diaphragmatic hernia)
Indian J Pediatr
mutations have been reported in cases of CH with other malformations, but our case had no such mutations. We hope our case might add to the existing literature of these two important entities.
2.
Conflict of Interest None. Source of Funding None.
3.
4.
References 1. Gaudino R, Garel C, Czernichow P, Léger J. Proportion of various types of thyroid disorders among newborns with congenital
5.
hypothyroidism and normally located gland: a regional cohort study. Clin Endocrinol (Oxford). 2005;62:444–8. Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, Spagnolo A, et al; Study Group for Congenital Hypothyroidism. A populationbased study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991–1998). J Clin Endocrinol Metab. 2002;87:557–62. Kumar J, Gordillo R, Kaskel FJ, Druschel CM, Woroniecki RP. Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. J Pediatr. 2009;154:263–6. Siebner R, Merlob P, Kaiserman I, Sack J. Congenital anomalies concomitant with persistent primary congenital hypothyroidism. Am J Med Genet. 1992;44:57–60. Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004;145: 190–3.
SCIENTIFIC LETTER
Congenital Hypothyroidism Associated with Congenital Diaphragmatic Hernia Birendra Rai & Abhidhamma Kaninde & Sudha Moka & Muhammad Ali
Received: 10 February 2014 / Accepted: 22 May 2014 # Dr. K C Chaudhuri Foundation 2014
To the Editor: A female infant was born by normal delivery at full term with birth weight of 2.95 kg. The antenatal period was uneventful except mild polyhydramnios that resolved in repeat scan done after two weeks. Baby was vigorous at birth with Apgar’s of eight and nine at one and five minutes respectively. She developed respiratory distress at four hours of age and chest radiograph revealed left sided diaphragmatic hernia with moderate shift of the mediastinum to the right side (Fig. 1). Subsequently, she was intubated and commenced on mechanical ventilation. She underwent surgical repair of diaphragmatic hernia at 12 h of age. Post-operative recovery was uneventful. Blood taken for newborn screening by heel prick on day 5 of life revealed high thyroid stimulating hormone (TSH) with value 43 mU/L. Subsequent thyroid function tests (TFT) revealed total T4 and TSH levels as 8 mcg/dL and 51 mU/L respectively. Ultrasound of the neck could not localise thyroid gland. One hundred twenty-three Iodine Radionuclide thyroid scan performed on day eight of life showed zero uptake at neck. She was commenced on thyroxin supplement immediately. Free T4 and TSH levels normalised after 3 wk of commencement of therapy. Cytogenetic study revealed normal female karyotype and DNA microarray did not reveal any genetic mutation.
Congenital hypothyroidism (CH) is the most common cause of preventable intellectual disability in pediatric population. Its incidence has been cited around 1:4000 in several studies [1]. CH has been associated with various congenital malformations with cardiac being the most common [2]. Associations of CH, mainly of syndromic varieties, have also been sought with various renal, urologic, skeletal, gastrointestinal, and neurological (ataxia) abnormalities [3–5]. Though neonatal respiratory distress has been ascribed as an association of congenital hypothyroidism by Doyle et al., our extensive literature search could not reveal any case or incidence of Congenital diaphragmatic hernia (CDH) associated with congenital hypothyroidism, though umbilical hernia is a commonly reported finding in CH. Few genetic
B. Rai (*) Department of Pediatrics, Midland Regional Hospital, Mullingar, Ireland e-mail: [email protected] A. Kaninde Department of Pediatrics, Cork University Hospital, Cork, Ireland S. Moka Department of Neonatology, Midland Regional Hospital, Mullingar, Ireland M. Ali Department of Neonatology, Wishaw General Hospital, Wishaw, UK
Fig. 1 Radiograph chest showing herniation of abdominal contents into left hemithorax with mediastinal shift to the right (Congenital diaphragmatic hernia)
Indian J Pediatr
mutations have been reported in cases of CH with other malformations, but our case had no such mutations. We hope our case might add to the existing literature of these two important entities.
2.
Conflict of Interest None. Source of Funding None.
3.
4.
References 1. Gaudino R, Garel C, Czernichow P, Léger J. Proportion of various types of thyroid disorders among newborns with congenital
5.
hypothyroidism and normally located gland: a regional cohort study. Clin Endocrinol (Oxford). 2005;62:444–8. Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, Spagnolo A, et al; Study Group for Congenital Hypothyroidism. A populationbased study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991–1998). J Clin Endocrinol Metab. 2002;87:557–62. Kumar J, Gordillo R, Kaskel FJ, Druschel CM, Woroniecki RP. Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. J Pediatr. 2009;154:263–6. Siebner R, Merlob P, Kaiserman I, Sack J. Congenital anomalies concomitant with persistent primary congenital hypothyroidism. Am J Med Genet. 1992;44:57–60. Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004;145: 190–3.
