Çelik and Andıran, Pediatr Therapeut 2011, 1:2 DOI: 10.4172/2161-0665.1000104 Volume 1 • Issue 2 • 1000104 Pediatr Therapeut ISSN: 2161-0665 Pediatrics, an open access journal Open Access Case Report A Case with Thyroid Agenesis and Primary Craniosynostosis: An Intriguing Coexistence Nurullah Çelik 1 * and Nesibe Andıran 2 1 M.D, Pediatrician, Division of Endocrinology, Department of Pediatrics, Faculty of Medicine, Fatih University, Ankara, Turkey 2 M.D, Associate Professor of Pediatrics Division of Endocrinology, Department of Pediatrics, Faculty of Medicine, Fatih University, Ankara, Turkey Abstract Congenital hypothyroidism is one of the most important causes of preventable mental retardation, occurring in approximately 1 in 2000 to 4000 newborn infants. With the introduction of a screening program worldwide, it was observed that congenital hypothyroidism was associated with a higher frequency of extra-thyroidal congenital anomalies compared to the normal population. Reported here is a case of a 50-day-old female patient with thyroid agenesis and craniosynostosis. *Corresponding author: NurullahCelik, MD, Kentkoop mah. Yeniumutlar sitesi, E4/16 Batıkent / Ankara Türkiye, Turkey, E-mail: celiknurullah@hotmail.com Received October 15, 2011; Accepted September 17, 2011; Published November 11, 2011 Citation: Çelik N, Andıran N (2011) A Case with Thyroid Agenesis and Primary Craniosynostosis: An Intriguing Coexistence. Pediatr Therapeut 1:104. doi:10.4172/2161-0665.1000104 Copyright: © 2011 Çelik N, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Keywords: Congenital hypothyroidism; Tyroid agenesis; Cranio- synostosis Introduction Congenital hypothyroidism (CH) has a worldwide incidence of approximately 1 in 2000-4000 live births [1], with 7.3-24% of afected newborns also having an accompanying congenital malformation (CM) [2,3]. Although craniosynostosis has been reported to occur in children with CH following overtreatment with levothyroxine (LT4), the association of CH with primary craniosynostosis is very uncommon. Case A 50-day-old girl with CH was referred to our department for dose adjustment of LT4. She had been diagnosed with CH (pretreatment TSH was > 100) and craniosynostosis in another center afer presenting with constipation as a 24-day-old baby. Her parents were second- degree relatives. She was born at term by normal spontaneous vaginal delivery weighing 2700 g. Te mother denied having taken any medication during pregnancy. On examination, she weighed 3.6 kg (<3 p) with a height of 50 cm (<3 p) and a head circumference of 36 cm (<3 p). Vital signs were normal. Te patient’s head was microcephalic in appearance, and her anterior fontanel could not be palpated. Physical examination was otherwise unremarkable. Te patient had a blood hemoglobin concentration of 9.3 gr/dL, with white blood cell and platelet counts of 11900 x 10 3 /µL and 152000 x 10 3 / µL, respectively. Serum level of glucose was 91 mg/dl, with a urea concentration of 41 mg/dl and a creatinine level of 0.43 mg/dl. Liver transaminases and serum electrolytes were within normal range (SGOT, 36 U/I; SGPT, 21 U/I; Na, 141 mmol/L; K, 4.33 mmol/L; Cl, 103 mmol/L; Ca, 10.5 mg/dl). Te patient was euthyroid on presentation with a serum TSH level of 3.43 uIU/ml (0.5-6.5) and a free thyroxine level of 1.17 ng/dl (0.74-1.52). Pretreatment fndings on thyroid ultrasonography and scintigraphy were consistent with thyroid agenesis. Results of a renal ultrasound were normal, and cardiac evaluation by echocardiography was unremarkable. Te patient eventually underwent surgery for craniosynostosis at the age of 5 months, and on her last follow-up visit at 22 months of age all aspects of development were normal. Discussion CH is one of the most important causes of preventable mental retardation [1]. Following the initiation of a nationwide screening program in January 2007 by the Turkish Ministry of Health, earlier studies from Turkey reported on a CH incidence of 1/2326 to 1/3800 [4]. With the advent of screening programs, a higher frequency of extra-thyroidal congenital anomalies was also observed in association with CH, compared to the general population. Oliveri [5] reported on a frequency of CM among patients with CH four times higher than that of the normal population (8.4% vs. 1-2%), the most commonly encountered being cardiac anomalies. Other observed anomalies include those of the neuromuscular system, genitourinary system, eye, ear and clef palate [2,3] . Craniosynostosis is a term used to refer to the premature closure of one or more cranial sutures. It may be classifed as either simple or multiple depending on the number of sutures afected, as primary (cause is unknown) or secondary (a known cause) based on etiology, and as syndromic or non-syndromic depending on the presence of other fndings suggesting multiorgan involvement. Te most commonly encountered type is primary, simple non-syndromiccraniosynostosis, with an estimated incidence of 1 in every 2000-2500 live births [6]. Besides the genetic connection, teratogenic factors may be responsible for the development of congenital anomalies involving several organ systems which share the same embryonic origins, particularly during the early stages of embryogenesis. For example, the thymus, thyroid C-cells, parathyroid glands and the heart develop from the same neuronal crest [7,8], all of which may be involved simultaneously. A newborn with CH is normally expected to have a large anterior fontanel and an open posterior fontanel, whereas primary craniosynostosis is not a typical fnding in such patients. Although the occurrence of thyroid agenesis and primary craniosynostosis in our patient may be purely coincidental, an as yet unidentifed genetic anomaly may be responsible for both entities. Very few reports may be encountered in the literature on the coexistence of hypothyroidism and craniosynostosis. Tan [9] describe two male siblings with obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy and delayed P e d i a t ri c s & T h e r a p e u t i c s ISSN: 2161-0665 Pediatrics & Therapeutics