P S N Menon

Jaber Al Ahmed Armed Forces Hospital · Pediatrics

Hyperthyroidism can manifest very early in fetal life (fetal thyrotoxicosis) or immediately after birth (neonatal thyrotoxicosis). The authors describe outcome of pregnancies in a woman with Graves' disease who received medical management and underwent subtotal thyroidectomy. The first pregnancy resulted in macerated stillbirth at 32 wk. Fetal tach...

Significant strides have been made on growth hormone (GH) therapy in children and adolescents over the past five decades. The launch of recombinant human GH (rHGH) in 1985 eliminated the risk of Creutzfeldt-Jakob disease with cadaveric GH; ensured an ongoing unlimited supply and also increased the number of children eligible for therapy. The indica...

Childhood obesity has become a major global health problem with an alarming escalating trend in the recent years. The World Health Organization perceives this as the most grim public health challenge for the 21st century, not only due to the rapidly increasing prevalence rates among children and adolescents but the tracking seen into adulthood. Cur...

The term 'precocious puberty' signifies the onset of secondary sexual characters before the age of 9 y in boys and 8 y in girls. Menarche before 9.5 y is also considered precocious. These definitions are constantly evolving due to the secular trends observed all over the world. It is crucial to decide whether the child has central (gonadotropin-dep...

The introduction of insulin analogues, of which insulin lispro is the prototype, marks a very important milestone in the management of patients with diabetes mellitus. It differs from regular human insulin in its quicker onset and shorter duration of action. Invarious clinical trials, insulin lispro was found to be superior to regular human insulin...

I-cell disease (Mucolipidosis II) is one of the lysosomal storage diseases which presents in the neonatal period, and within six months will phenotypically resemble the severe forms of the group of disorders called the “mucopolysaccharidoses” but without mucopolysacchariduria. In Mucolipidosis II, fibrocytes exhibit “abnormal lysosomes”. Activities...

Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a “hidden eye”, other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cryptophthalmos sequence and cryp...

Precocious puberty poses significant diagnostic and therapeutic challenge to the physician. Recent advances in the understanding of pathophysiology of precocious puberty have resulted in improved management. Timely intervention is mandatory to achieve successful outcome. The identification of critical role of KISS-1-kisspeptin-GPR54 system has gone...

Ten children aged 11 months to 10 years (means 5.7 years) with reflux nephropathy, vesicoureteric reflux (VUR) and normal or mildly impaired renal function having GFR more than 50 ml/min/1.72 m(2), were included in the study. The hematological and biochemical parameters were within normal limits. Height standard deviation score (HZ score) was reduc...

To evaluate the profile of children with central diabetes insipidus (DI) and identify factors indicating organic etiology. Retrospective chart review. Tertiary referral hospital. Fifty-nine children with central DI (40 boys, 19 girls). Features of organic and idiopathic central DI were compared using students t test and chi square test. Odds ratio...

Very little is known about the genetics of cystic fibrosis (CF) from the Indian subcontinent. The aims of the study were to identify the mutations and study the relation of genotype with phenotype in Indian children with CF. A total of 100 patients with CF were screened for mutations in the CFTR gene. These included c.1521_1523delCTT (p.F508del) an...

In the last two decades growth hormone (GH) therapy has expanded to include many children with non-GH deficient short stature such as idiopathic short stature (ISS), skeletal dysplasia, genetic syndromes and other chronic diseases associated with short stature. ISS now appears to be the most common indication for GH treatment. It is difficult to di...

Growth pattern and final height were evaluated in 47 children with 21-hydroxylase deficiency to identify factors influencing growth. The subjects were followed-up from the age of 0.6 +/- 1.2 years for 8.8 +/- 3.9 years. Final height SDS was significantly below target height SDS (- 2.5 +/- 1.4 versus - 1.0 +/- 1.0, P < 0.001). Laboratory monitoring...

To evaluate serum leptin levels in obese Indian children and its correlation to anthropometric and biochemical parameters. Cohort study. Referral tertiary hospital. Leptin levels were measured in 36 children (26 boys, age 1.5 to 15 years) and 37 adults (21 men, age 25 to 69 years) with obesity and 29 normal weight controls (15 children and 14 adult...

Ovarian cysts have been reported in girls with longstanding uncompensated primary hypothyroidism. Restoration of euthyroid state has been associated with resolution of these cysts; long-term follow-up of these patients is however lacking. We evaluated the outcome in ten girls with ovarian cysts and hypothyroidism managed at our hospital with specia...

To evaluate pattern of growth and skeletal maturation following growth hormone (GH) therapy in children with GH deficiency (GHD) with special emphasis on factors influencing outcome. Records of ninety-six children (67 boys, 29 girls) with GHD treated with GH for 2.3 +/-2.1 years were reviewed. Height SDS at the end of treatment was significantly hi...

Diagnosis of 11beta-hydroxylase deficiency was made in a boy at the age of 2 1/2 years on the basis of peripheral precocious puberty, growth acceleration (height standard deviation score +4.4) with advanced skeletal maturation (bone age 8.4 years) and elevated deoxycortisol levels. Glucocorticoid supplementation led to normalization of blood pressu...

During the period 1986-1993, 24 children with hyperthyroidism were referred to us for management. Two of them had factitious hyperthyroidism, one toxic nodular goiter and another neonatal Graves' disease. Twenty children (6M, 14F) had Graves' disease. Their age at presentation was 10.86 +/- 2.02 years and duration of symptoms ranged from 2.5 months...

The growth hormone-insulin like growth factor (GH-IGF) axis plays a crucial role in the regulation of growth. Initially considered to be a mediator of growth hormone actions, IGF axis has been established as an independent endocrine system with wide array of actions. Recent advances have led to tremendous increase in the clinical utility of the IGF...

Familial combined hyperlipidemia is the most common genetic hyperlipidemia and is responsible for premature coronary artery disease. It is genetically heterogenous and no single diagnostic marker exists. The authors report an affected North Indian kindred spanning three successive generations with a possible autosomal dominant pattern of inheritanc...

BACKGROUND: First trimester pregnancy loss is a very common complication and a matter of concern for couples planning pregnancy. Balanced chromosomal rearrangements in either parent is an important cause of recurrent pregnancy loss particularly in the first trimester. AIMS: In this study an evaluation of the contribution of chromosomal anomalies in...

Growth hormone (GH) therapy has revolutionized treatment of children with growth hormone deficiency (GHD). Improved height outcome with final height in the target height range has been achieved in these children. Identification of Creutzfeldt-Jakob disease, a deadly prion mediated disorder, in recipients of pituitary GH accelerated the transition f...

We evaluated clinical features, laboratory profile and pointers to diagnosis of 21-hydroxylase deficiency in children presenting to the Pediatric Endocrine Clinic of our hospital from 1990 to 2002. Of the 94 patients included in the study 46 had salt wasting form (SW, 21 girls), 44 simple virilizing form (SV, 34 girls) and 4 non-classical form of t...

We report a 10 year-old girl with panhypopituitarism and coexistent ocular and neurocysticercosis. Intrasellar cystic lesions whether neoplastic or non-neoplastic in origin are often difficult to distinguish because their symptoms, signs, and radiological characteristics are similar. The diagnosis of intrasellar cysticercosis was initially consider...

Abnormalities in the lipid profile though uncommon in pediatric practice pose an increased risk for developing heart disease. Studies suggest that adult cardiovascular disease has its roots in children and young adults. A significant correlation between atherosclerotic changes in children and young adults and total and LDL cholesterol levels also e...

Human leukocyte antigen (HLA) encoded susceptibility to develop type 1 diabetes mellitus (T1DM) has been investigated in children from North India. The results revealed significantly increased prevalence of HLA-A26, -B8, and -B50 among patients and strong positive association of the disease with DRB1*0301 (82.1% vs 13.9%, chi2=71.3, odds ratio [OR]...

Several studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non-syndromic hearing impairment. A GJB2 mutant allele, 35delG, has been found to have a high prevalence in most ethnic groups. Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian famili...

The heterogeneous nature of the mutations, the size, and the complexity of the factor VIII gene makes direct mutation analysis in hemophilia A families in India an option that is not very feasible and practical. Thus, carrier screening and prenatal diagnosis of hemophilia A often depends on haplotype analysis using restriction fragment length polym...

Childhood epileptic syndrome characterized by early onset gelastic seizures, hypothalamic hamartoma and precocious puberty is well recognized though rare. We report association of agenesis of corpus callosum, Dandy-Walker complex and heterotopic gray matter with this childhood epileptic syndrome which is hitherto an unreported association. The chil...

The profile of diabetes mellitus seen in the developing countries differs from that seen in the developed world with regards to clinical, genetic and etiological features. Type 1 or insulin-dependent diabetes mellitus (type 1 DM or IDDM) and type 2 or non-insulin-dependent diabetes mellitus (type 2 DM or NIDDM) are the most common forms of diabetes...

Cystic Fibrosis (CF) is a chronic, progressive, autosmal recessive disease of the exocrine glands involving multiple organs resulting in diverse phenotype. Mutations in Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene cause altered function of chloride channels on the apical membrane of the epithelial cells. More than 1000 mutations...

The objective of this study was to evaluate the clinical and endocrine profile of patients with precocious puberty followed up in a tertiary care hospital. Records of 140 patients (114 girls, 26 boys) with precocious puberty were reviewed. Clinical features including age of onset, stage of pubertal development, presenting symptoms, features suggest...

To evaluate the efficacy of long acting GnRH analogue in improving the auxological outcome of patients with central isosexual precocious puberty (CIPP) and to determine the factors influencing the response. Thirty-five patients (30 girls, 5 boys) with CIPP were treated with a long acting GnRH analogue, triptorelin. Final height outcomes and factors...

Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G-->C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness ( DFNB18) segregating i...

A 6 year-old boy presented with peripheral precocious puberty and was diagnosed as having simple virilizing 21-hydroxylase deficiency based on clinical features and elevated 17-hydroxyprogesterone levels on ACTH stimulation. He was managed with glucocorticoids and mineralocorticoids. Two years later he presented with features of CNS involvement in...

Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory function. Here we report a locus for dominant deafness, DFNA36, which maps to human chromosome 9q13-21 in a region overlapping the DFNB7/B11 locus for recessive deafness. We identified eight mutations in a new gene, transmem...

Prenatal karyotyping using foetal blood samples obtained by cordocentesis is a useful method of detecting abnormal chromosomes in the foetus. Cordocentesis was performed in 187 cases for prenatal karyotyping between January 1995 and September 2000. Pregnant women were between 18 and 38 weeks of gestation and their ages ranged from 18 to 40 years. T...

Hemophilia B is an X-linked, recessive disorder of hemostasis, caused by a defect in coagulation factor IX. To date, several restriction fragment length polymorphisms (RFLPs) have been identified within the gene for human factor IX. The incidence of these RFLPs differs significantly in different populations. In the present study, we analyzed the he...

Mutations in myosin XVA are responsible for the shaker 2 ( sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. We report three novel homozygous muta...

Haemoglobinopathies constitute a major health problem in the Indian subcontinent. In the absence of any method for achieving complete cure and treatment being expensive, prenatal diagnosis and selective termination of an affected foetus is a feasible option to decrease the disease load. We report our experience with prenatal diagnosis of haemoglobi...

The objective of the present study was to determine the prevalence of autoimmune thyroid disease in Indian children with type 1 diabetes mellitus by the assay of antibodies to thyroid peroxidase and thyroglobulin. The study population consisted of 35 children with type 1 diabetes mellitus and 32 healthy age- and sex-matched control children. Thyroi...

Congenital adrenal hyperplasia (CAH) is the commonest cause of female pseudohermaphroditism. It is most often due to steroid 21-hydroxylase deficiency resulting from mutations in the CYP21 gene. This study was conducted to characterize mutations in the CYP21 gene, determine their frequency and correlate genotype with phenotype in Indian children wi...

Congenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening...

Little is known about the heterozygous frequency of factor VIII gene markers in the Asian Indian population. The objective of this study was to establish the heterozygous frequency of polymorphic markers within and flanking the factor VIII gene in Indians and identify those most informative for carrier screening and prenatal diagnosis. Factor VIII...

Four children characterised by megalencephaly and cerebral leukoencephalopathy with infantile onset, defined on the basis of clinical and neuroimaging findings are reported. The course of the disease is characterised by stabilization of the macrocephaly and slow clinical deterioration. The CT scan findings include supratentorial diffuse hypodensiti...

The term cryptorchidism indicates a testis, which has failed to descend to the scrotum and is located at any point along the normal path of descent or at an ectopic site. Hormones play a pivotal role in testicular descent except during the migration to the level of internal inguinal ring. Cryptorchidism is present in about 4.5% of newborns with a h...

Micropenis refers to an extremely small penis with a stretched penile length of less than 2.5 SD below the mean for age or stage of sexual development. It should be differentiated from a buried or hidden penis and aphallia. It is important to use a standard technique of stretched penile measurement and nomograms for age to identify children with mi...

Diabetes mellitus is uncommon in infancy and newborn period. The two common forms seen are the transient and permanent forms of diabetes mellitus of the newborn. They have to be differentiated from the transient hyperglycemic states (Blood sugar > 125 mg/dl) seen in newborns who receive parenteral glucose infusions and in those with septicemia and...

Adolescent girls (10-19 years old) comprise about 22% of women in India. They are the mothers of tomorrow and the burden of planned reproduction rests on them. Yet very little is known about their knowledge and attitudes towards reproductive health issues--a crucial aspect if India is to achieve the net reproduction rate of 1 by AD 2016. This study...

Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders seen in children. Mutations in the DMD gene coding for the protein dystrophin causes the severe muscle-wasting disorder leading to death in the second decade of life. In the absence of a cure, prenatal diagnosis (PND) appears to be the best approach to reduce the...

To evaluate prospectively cardiac function in children with primary hypothyroidism before and after replacement therapy with L-thyroxine. Prospective clinical and laboratory cardiac evaluation of children with hypothyroidism before and after therapy. Hospital based. 20 consecutive children aged 6 months - 14 years with primary hypothyroidism. Asses...

A rare case of hypothalamic hamartoma with unusual radiologic and histopathological features is described, possibly the first of its type in English literature. A 1.5-year-old female child presented with precocious puberty. MR scan of the brain revealed a pedunculated hypothalamic mass, most of which was isointense with normal brain on T1- and T2-w...

A rare case of hypothalamic hamartoma with unusual radiologic and histopathological features is described, possibly the first of its type in English literature. A 1.5-year-old female child presented with precocious puberty. MR scan of the brain revealed a pedunculated hypothalamic mass, most of which was isointense with normal brain on T1- and T2-w...

The easy availability of growth hormone (GH) in the Indian market has led to its increased use in the management of short stature. However, the therapy is expensive for most families. The possible benefits of such a therapy have to be carefully weighed against the cost and adverse effects. We discuss the drawbacks of relying on data based on predic...

Ambiguity of genitalia in the newborns and children still remains a poorly understood subject and even during the postgraduate teaching programmes, very little attention has been paid to make this subject popular. There is also no chapter "without tears" on the subject for the proper management and to prevent the agony of the parents resulting from...

Primary hyperparathyroidism is an uncommon condition in childhood that is easily amenable to surgical treatment with excellent results. Pathologically, the parathyroid glands may show generalized hyperplasia or, more commonly, adenoma formation, the latter frequently being seen in adolescence. Two girls with solitary parathyroid adenomas and predom...

A thirteen year-old boy with progressive enlargement of the joints and distal extremities, clubbing, coarse facial features and hyperhidrosis was investigated. His endocrine profile was normal. Radiological studies demonstrated bilateral symmetrical periosteal new bone formation with acroosteolysis. After extensive investigation to exclude systemic...

Forty-five children (28 girls and 17 boys; mean age 4.5 years) with hypothyroidism referred to us from January 1989 to November 1990 were evaluated prospectively for the pattern of hypothyroidism by hormone assays, scintiscan and urinary iodine estimation. Among the 6 children from non-endemic areas, athyreosis and/or hypoplasia were seen in 3, ect...

A 14 year old girl with bilateral genu valgum of 6 years duration was brought for evaluation of primary hyperparathyroidism. She had clinical features of rickets such as frontal bossing, rachitic rosary, lumbar lordosis and fixed adduction deformity of the left leg. She had undergone osteotomy earlier for correction of these deformities without ben...