Congenital Hypothyroidism Presenting Research Articles

Congenital hypothyroidism presenting as myxedema coma in adulthood treated using oral levothyroxine in a limited setting: a case report

Congenital hypothyroidism presenting as myxedema coma in adulthood treated using oral levothyroxine in a limited setting: a case report

Aetiology and the mode of presentation of congenital hypothyroidism - a 10 year single centre experience in a tertiary care centre in Sri Lanka

Aetiology and the mode of presentation of congenital hypothyroidism - a 10 year single centre experience in a tertiary care centre in Sri Lanka

An Unusual Presentation of Congenital Hypothyroidism in a Newborn: Transient Pseudo-Obstruction

Congenital hypothyroidism is mostly asymptomatic at birth. It is usually detected by targeted neonatal screening for CH that is performed after birth. Nonetheless, there are reports of rare and vague presentations of CH, as protracted icterus, abdominal distension, skin mottling, hypoactivity, poor feeding, muscle hypotonia, huge posterior fontanel, difficulty in breathing, hypothermia, peripheral cyanosis, abdominal distension, vomiting, and edema [1]. We report a preterm neonate that presented with abdominal distension with feeding intolerance, secondary to gastrointestinal hypomotility caused by congenital hypothyroidism.

Clinico-aetiological Profile of Congenital Hypothyroidism

Introduction: Thyroid hormone is critical for normal brain development in the early postnatal months. Biochemical diagnosis must be made soon after birth and effective treatment must be initiated promptly to prevent irreversible brain damage. Early diagnosis and adequate treatment from the first weeks of life result in normal linear growth and development. This study was conducted to find out the clinical features suggestive of congenital hypothyroidism and also its causation. Materials and Methods: This was a hospital based retrospective study of 40 congenital hypothyroid children conducted at endocrine unit of Kanti Children’s hospital from 2067 to 2072. All congenital hypothyroid children were reviewed in detail and frequency of signs/symptoms was calculated and also the possible causes were established using ultrasonography and scintigraphy.Results: Out of 40 congenital hypothyroid children 55% were male and 45% were female with M: F ratio of 1.23:1.Common age of presentation of congenital hypothyroidism was 6 to 12 months. The most frequent symptoms were decreased activity/ lethargy (78.9%) followed by stunted height (68.4%) and hypotonia (65.8%).Technetium thyroid scan was performed in 19 cases among which thyroid agenesis was the most common cause of congenital hypothyroidism (42.1%) followed by dyshormonogenesis (31.6%) and ectopic thyroid (26.3%).Conclusion: Early diagnosis of congenital hypothyroidism is possible in some children based on clinical features followed by biomedical investigation soon after birth.J Nepal Paediatr Soc 2016; 36(2):126-130

Congenital hypothyroidism presenting with seizures in a newborn

Hypothyroidism is not known to present with seizures in neonates. This report describes a newborn who presented with seizures that were not controlled with several antiepileptic medications. The infant was later diagnosed with hypothyroidism, and started on L-thyroxine. Seizures subsequently ceased and the antiepileptic medications were stopped. (J Pediatr Neurol 2004; 2(2): 111–113).

Congenital Hypothyroidism Presenting with Seizures and Pseudo-Hirschsprung’s Disease in Newborn

To the Editor: Congenital Hypothyroidism (CH) is one of the most common preventable causes of mental retardation. Thyroid screening is done in an infant with post maturity, macrosomia, wide open posterior fontanel, prolonged unconjugate jaundice, constipation, poor feeding, hypotonia, hoarse cry, umbilical hernia, macroglossia and dry or edematous skin and in a child with growth delay and thyroid swelling [1]. In this report, we describe a rare association of seizures and pseudoHirschsprung’s disease with hypothyroidism in a neonate. A male newborn, 3 kg at birth presented on day 4 of life with abdominal distension and bilious vomiting. On abdominal examination, there was divarication of recti, prominent veins; visible bowel loops and bowel sounds were present on auscultation. C-reactive protein was negative, serum electrolytes, kidney and liver function tests were normal. Plain abdominal radiograph and USG abdomen revealed dilated gas filled bowel loops. Barium enema revealed faint opacification of rectum and descending colon with air distended proximal colon. At the 2nd hour of admission, the infant was noted to have recurrent seizures that got controlled with Phenobarbital. Seizure workup was normal. As the infant had persistent unexplained abdominal distension, thyroid function tests done on day 4 showed low T3 (0.10 ng/mL), low T4 (0.8 μg/dL) and high Thyroid Stimulating Hormone (TSH >150 μIU/mL). Maternal thyroid profile was normal. Baby responded well to thyroxin started at 15 μg/kg/day on the 6th day. Thyroid nuclear scan showed non visualization of thyroid gland consistent with congenital Athyrogenesis. Persistent clinical features with sluggish bowel motility on the ultrasound, abnormal thyroid profile, and good clinical response to oral thyroxin are suggestive of an association of congenital hypothyroidism with pseudo intestinal obstruction [2] Transient neonatal seizures have previously been reported to be associated with congenital hypothyroidism [3]. The likelihood of an accidental association between hypothyroidism and seizures in this infant was low as metabolic parameters, sepsis screen, blood cultures and neuroimaging were all normal. The purpose of this case report is to encourage pediatrician to investigate for hypothyroidism in clinically suspected pseudo intestinal obstruction and as a routine screening in all sick newborns.

Congenital hypothyroidism - An usual suspect at an unusual age: A case series

Menorrhagia is the most common menstrual irregularity in hypothyroid women. However, it is an uncommon presentation of congenital hypothyroidism (CH). In the era of newborn screening across the world, when CH is extremely rare, we came across four cases of CH due to delayed diagnosis, presenting in adulthood with severe menorrhagia.Aims:To signify the atypical presentation of CH in late adulthood due to delayed diagnosis and its sequelae; and to increase the awareness about this treatable condition.Settings and Design:This is a cross-sectional analysis of consecutive patients with CH presenting after 18 years between 2010 and 2012 from the CH registry of Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), India.Subjects and Methods:Four patients of CH presenting late (>18 years) with atypical presentations out of total 16 cases of CH within a period of 3 years were analyzed for clinical, hormonal, and imaging findings.Results:Between the years 2010 and 2012, 16 cases of CH were registered at our center out of which four cases presented in late adolescence and adulthood with menorrhagia. Age range of these patients was 18-30 years. All four patients were females presenting with anemia secondary to menorrhagia and upon evaluation were found to have CH. All of them showed improvement after starting treatment and are currently doing well with regular menstrual cycles.Conclusions:Our study demonstrates the importance of thyroid evaluation in a patient presenting with menorrhagia along with short stature. There is need for awareness among clinicians regarding the clinical features of CH and nationwide screening for CH in our country.

Anaesthetic considerations in a prematurely born infant with congenital hypothyroidism presenting for cataract surgery

Anaesthetic management of the premature infant is a challenge. This is owing to the immaturity of his or her organ systems and the possible presence of sequelae of premature birth, such as bronchopulmonary dysplasia, apnoea, patent ductus arteriosus and intraventricular haemorrhage. The premature infant is at risk of developing postoperative apnoea, hypothermia and hypoglycaemia until his or her postgestational age is more than 60 weeks. Conditions such as congenital bilateral cataract and congenital hypothyroidism may be associated with other birth defects and syndromes. Recommendations for early cataract surgery may necessitate anaesthetising premature infants with postconceptional ages less than 60 weeks, or those who have had recently diagnosed medical conditions, such as hypothyroidism. We describe the anaesthetic considerations in a, so far, unreported scenario of a premature infant with bilateral congenital cataract and congenital hypothyroidism who presented for cataract surgery.

Cretinism revisited

Objective:Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital hypothyroidism. It has been largely eliminated in the developed world, though we still continue to see cases in India.Case Report:A 22-year-old male was brought to our Endocrine clinic by his brother due to his “not growing up”. The patient was 83 cm in height (SDS – 16.98) and weighed 13.9 kg (<3rd percentile). He had dull look, puffy face with thick lips, macroglossia, and umbilical hernia. There was sexual infancy with prepubertal testes (<3 ml). He could sit without support, but could not stand, or walk without support and could only talk in monosyllables. He was born full term by normal vaginal delivery, and cried immediately after birth. The developmental milestones were delayed, and not achieved till date. He is the eldest of seven siblings, rest six of whom have no complaints. An X-ray of hand was done showing bone age of less than 1 year. A thyroid profile showed TSH >150 IU/ml, free T4 and T3 below the assay range. Ultrasound of neck showed absent thyroid tissue in neck. Iodine-131 uptake scan was consistent with thyroid aplasia. Diagnosis was myxematous cretinism due to thyroid aplasia was made, and patient was started on thyroxine supplementation.Conclusion:This case represents the most severe form of untreated congenital hypothyroidism presenting as severely stunted physical and mental growth with delayed bone and sexual maturation.

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

Various inactivating mutations in guanine nucleotide−binding protein, alpha−stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G protein coupled receptors including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone. In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue or dermal ossification (osteoma cutis) and psychomotor retardation with variable expression. We present a 2−year−old boy with PHP 1A who initially presented at age 3 weeks with congenital hypothyroidism. By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia. Genetic analysis revealed a novel mutation in exon 13 of GNAS1 in our patient. This mutation, c.1100_1101insA, resulted in a frameshift and premature truncation of bases downstream. This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. PHP1A is also a rare presentation of congenital hypothyroidism.Conflict of interest:None declared.

Intractable Neonatal Seizures: An Unusual Presentation of Congenital Hypothyroidism

Congenital hypothyroidism is the most common treatable cause of mental retardation. We report an unusual case of congenital hypothyroidism presenting as intractable seizures in an infant delivered to a mother known to have autoimmune hypothyroidism and who was noncompliant with therapy. To our knowledge, this rare presentation of congenital hypothyroidism has not been reported previously.

An Unusual Presentation of Congenital Hypothyroidism: A Report of Two Cases

An Unusual Presentation of Congenital Hypothyroidism: A Report of Two Cases

Galloway‐Mowat syndrome in Taiwan

We report on two Chinese female infants with multiple congenital anomalies: microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly. In the first patient, focal glomerulosclerosis was diagnosed histologically by percutaneous renal biopsy due to proteinuria with hematuria. Congenital hypothyroidism presenting with markedly low T3 and T4 was also noted. She died at age 5 months. The second patient had a very similar condition but less severe brain and kidney malformations. A variant of Galloway-Mowat syndrome is suspected.

Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia

An 11-year-old boy with short stature, dysplastic epiphyses, and vertebral abnormalities was thought to have spondyloepiphyseal dysplasia. He was subsequently found to have epiphyseal dysplasia secondary to congenital hypothyroidism. The radiographic findings in longstanding congenital hypothyroidism and spondyloepiphyseal dysplasia are compared and a possible mechanism for the dysplasia of hypothyroidism is discussed.