Publications by authors named "Rahul Jahagirdar"

9 Publications

  • Page 1 of 1

Sexual maturity assessment in Indian children-a study from western India.

J Pediatr Endocrinol Metab 2021 May 13;34(5):567-572. Epub 2021 Apr 13.

Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, Maharashtra, India.

Objectives: Pubertal assessment is crucial as puberty is the transition from childhood to adulthood. Pubertal assessment, growth, and secular trend in puberty need to be explored further in India. The objectives were to assess Sexual Maturity Rating (SMR) among children and establish normative data of puberty from western India. We also compared age of attainment of various stages of puberty with BMI and secular trend in menarche.

Methods: A cross-sectional observational study was undertaken at a tertiary care pediatric center. The study population were healthy girls and boys between 6 and 18 years. Demographic data was noted. Anthropometry and SMR assessment (Tanner staging) were performed. The age of menarche was noted among the girls and their mothers. Data were analyzed using SPSS 21.

Results: In girls, median age of thelarche, pubarche, and menarche was 9.37 (8.5-10.2), 10.18 (9.87-10.49), and 12.55 years (12.41-12.75) respectively. There was an early appearance of thelarche but menarche was delayed in overweight-obese girls (statistically not significant). Age of menarche showed a shift to left in girls as compared to their mothers (p=0.036). In boys, median age of testicular stage 2 and pubarche was 10.7 (9.9-11.8) and 11.6 years (11.1-12.1) respectively. In overweight-obese boys the pubertal milestones were achieved earlier (statistically not significant).

Conclusions: Normative data on pubertal assessment from western India is presented. Age of menarche shows a shift to left in girls as compared to their mothers. Pubertal milestones were observed at a younger age in overweight obese children which was not significant.
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http://dx.doi.org/10.1515/jpem-2020-0668DOI Listing
May 2021

Autoimmune Hypophysitis in Systemic Lupus Erythematosus.

Indian Pediatr 2021 01;58(1):84-85

Pediatric Rheumatology, Department of Pediatrics, Bharati Vidyapeeth University Medical College Hospital and Research Centre, Pune, Maharashtra, India.

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January 2021

Intussusception as a rare clinical presentation of a child with type 1 diabetes and diabetic ketoacidosis.

BMJ Case Rep 2020 Dec 9;13(12). Epub 2020 Dec 9.

Department of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India.

Intussusception in children is mainly idiopathic or due to a viral aetiology. Occasionally, pathological lead points like Meckel diverticulum or rarely metabolic causes like hyperglycaemia can result in formation of an intussusception. We describe the case of a boy with diabetic ketoacidosis presenting with abdominal pain. Despite correction of acidosis, the gastrointestinal symptoms persisted for which an ultrasonography of the abdomen was performed. It revealed an ileo-ileal intussusception, which was confirmed by a CT scan. He underwent an exploratory laparotomy. After reduction of the intussusception, a Meckel diverticulum was found as the lead point that was then resected. We present a case of a child with type 1 diabetes having an intussusception due to Meckel diverticulum, which was probably made worse by the decreased intestinal motility due to hyperglycaemia. Intussusception should thus be suspected in patients with diabetic ketoacidosis if the pain is persistent despite correction of acidosis.
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http://dx.doi.org/10.1136/bcr-2020-237229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733091PMC
December 2020

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.

Endocrine 2021 01 18;71(1):189-198. Epub 2020 Sep 18.

Consultant Pediatrician and Deputy Director, Hirabai Cowasji Jehangir medical research Institute, Jehangir Hospital, Pune, Maharashtra, India.

Purpose: Accurate diagnosis is required for management of Congenital adrenal hyperplasia (CAH). The conventional method for detection of mutations in the CYP21A2 gene is targeted capillary sequencing which is labor intensive and has limited multiplexing capability. Next generation sequencing (NGS) provides data with high sequence coverage and depth. Our objective was to develop an accurate NGS-based assay to characterize the mutation spectrum in CYP21A2 gene in Indian patients suspected to have 21-OH CAH.

Methods: Cases with 21-OH CAH from 12 endocrine units across India were studied. DNA was extracted from proband's and parent's(subset) blood. Locus-specific long-range PCR and gel electrophoresis of amplicons was followed by NGS where no visible 30 kb homozygous/whole gene deletion was observed. Orthogonal confirmation was performed by capillary sequencing (ABI 3500) and Multiplex Ligation-dependent Probe Amplification (MLPA, MRC-Holland). PCR products were purified and individual libraries were pooled and sequenced (Illumina).

Results: Of the 310 CAH cases, biallelic mutations (pathogenic/ likely pathogenic variants involving both CYP21A2 gene copies) were detected in 256 (82.6%), heterozygous mutations in 13 (4.2 %), and none in 41 (13.2%). Most common mutation was c.293-13A/C>G (29.03%), followed by 30 kb deletion (18.24%). Thirty samples tested orthogonally (by capillary sequencing or MLPA) showed 100% concordance with NGS assay. Nine novel variants were identified.

Conclusions: We have developed and validated a comprehensive NGS-based assay for detection of variants in CYP21A2 gene in patients with 21-OH CAH. We describe CYP21A2 mutation spectrum and novel variants in a large cohort of Indian patients with CAH.
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http://dx.doi.org/10.1007/s12020-020-02494-zDOI Listing
January 2021

Growth Parameters of under 2-year-old Indian Children: A Comparison to WHO MGRS 2006 Charts.

Indian J Endocrinol Metab 2020 Mar-Apr;24(2):176-180. Epub 2020 Apr 30.

Department of Pediatrics, Bharati Vidyapeeth Medical College and Hospital, Pune, Maharashtra, India.

Context: Growth is an important biological process by which an individual reaches a point of complete physical development. Growth monitoring of a child is a very important utility to detect the deviation from normal growth. In India, for children below 2 years of age WHO multicentre growth reference study (MGRS) 2006 charts are being used for growth monitoring, which were prepared by measuring children from six different countries who were raised in optimum conditions of health and nutrition.

Aim: This study was carried out to verify the appropriateness of the WHO MRGS 2006 charts to monitor the growth of Indian children who are below 2 years of age.

Settings And Design: The study was carried out in a tertiary care hospital in Pune, Maharashtra.

Materials And Methods: A total of 1947 children [1089 boys (55.9%)] were measured for weight, length and head circumference. Z score for each observed value was calculated according the similar but gender-specific WHO MGRS 2006 growth charts.

Statistical Analysis Used: The age- and sex-specific Z-scores or standard deviation scores along with prevalence were obtained for each study parameter using WHO standards.

Results: A total of 24.08%, 21.31%, and 20.54% of the children were classified as underweight, stunted and microcephalic respectively when compared to the WHO MGRS 2006 growth charts.

Conclusion: The WHO MGRS 2006 charts may not be appropriate for growth monitoring of Indian children below 2 years of age and there is a need formulate growth charts which can reflect the growth of Indian children.
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http://dx.doi.org/10.4103/ijem.IJEM_570_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333749PMC
April 2020

Field Testing of IAP2015 Charts.

Indian J Pediatr 2018 09 24;85(9):723-728. Epub 2018 Jan 24.

Department of Pediatric Endocrinology, Bharati Vidyapeeth Medical College and Hospital, Pune, Maharashtra, India.

Objectives: To field test the IAP2015 (Indian Academy of Pediatrics) charts in different socioeconomic classes; to compare standard deviation scores (Z-scores) of children's height, weight and body mass index (BMI) for age as computed based on IAP2007 or WHO charts against the IAP2015 references.

Methods: A cross-sectional observational study was conducted in the district of Pune on apparently healthy 5-18 y old children from urban affluent, urban underprivileged and rural areas. Anthropometric measurements were performed and parameters were converted into Z-scores.

Results: Urban affluent children were tallest and heaviest whereas urban underprivileged children were shortest. Z-score comparison showed that all children were shortest on WHO references and taller as per IAP2007 references. BMI Z-score was higher on IAP2007 charts and lower on WHO references. Highest number of children were within the reference range on IAP2015 charts among urban affluent. More children were classified stunted on WHO references and least on IAP2007 references. WHO references overestimated wasting and as per IAP2007 charts, less number were wasted. Less number of children were classified as being obese/overweight by WHO and IAP2007 references.

Conclusions: IAP2015 charts are better representative of healthy children of current generation and may be used to prevent inappropriate classification in present scenario.
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http://dx.doi.org/10.1007/s12098-018-2621-4DOI Listing
September 2018

Juvenile granulosa cell tumor associated with Ollier disease.

Indian J Med Paediatr Oncol 2016 Oct-Dec;37(4):293-295

Department of Pediatrics, Division of Pediatric Oncology, Bharati Vidyapeeth Medical College and Hospital, Pune, Maharashtra, India.

Juvenile granulosa cell tumor (JGCT) is a rare neoplasm of childhood. Interestingly, it is known to be associated with Ollier disease, which is a rare bone disease characterized by multiple enchondromatosis. There is paucity of literature about the co-occurence of these two conditions. However, this association is noteworthy because these two conditions share a common pathogenesis. We report a case of JGCT in a 2.5-year-old female child in which multiple enchondromas mimicking bony metastasis were an incidental finding during routine workup for tumor staging, thus leading to a diagnosis of Ollier disease.
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http://dx.doi.org/10.4103/0971-5851.195749DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5234168PMC
February 2017

Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita.

Indian J Pediatr 2013 Aug 22;80(8):631-5. Epub 2012 Dec 22.

Department of Pediatric Endocrinology, Growth and Pediatric Endocrine unit, Hirabai Cowasji Jehangir Medical Research Institute, Old Building Basement, Jehangir Hospital, 32, Sasson Road, Pune, Maharashtra 411001, India.

Objective: To report a case of Adrenal hypoplasia congenita (AHC) in an Indian boy presenting with adrenal failure in the neonatal period. Molecular diagnosis demonstrated absence of the entire DAX1 gene sequence region.

Methods: Real-time SYBR Green Polymerase Chain Reaction (PCR) amplification followed by melt curve analysis was the molecular analytical method used. Analysis of the PCR products by Agarose gel electrophoresis was also performed.

Results: Real-time SYBR Green PCR amplification carried out on a 240 bp region of Exon 1 and 320 bp region of Exon 2 of DAX1 gene did not result in any amplification for two independent DNA extractions of the patient sample. The melt curve analysis also failed to show the characteristic melt peaks. Additional analysis of the PCR products performed by Agarose gel electrophoresis of the patient samples did not reveal any DNA bands.

Conclusions: Inability to amplify two distinct regions located on two distinct exons of the DAX1 gene of the patient sample point to the possible absence of the entire DAX1 gene sequence region in the index patient. Such molecular diagnostic techniques may prove very useful in making a diagnosis as well as for genetic counseling.
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http://dx.doi.org/10.1007/s12098-012-0946-yDOI Listing
August 2013

Evaluation of GnRH analogue testing in diagnosis and management of children with pubertal disorders.

Indian J Endocrinol Metab 2012 May;16(3):400-5

Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, Maharashtra, India.

Context: Gonadotrophin releasing hormone (GnRH) stimulation test is pivotal in the assessment of children with pubertal disorders. However, lack of availability and high cost often result in the test falling into disfavor. We routinely use the GnRH analogue stimulation test as an alternative at our center.

Aim: To present the data on children with endocrine disorders who underwent GnRH agonist stimulation test in pediatric endocrine clinic of a tertiary care referral hospital.

Setting And Design: Pediatric endocrine clinic of a tertiary care referral hospital. Retrospective analysis of case records.

Materials And Methods: The details pertaining to clinical and radiological parameters and hormonal tests were retrieved from case records of 15 children who underwent GnRH agonist stimulation test from May 2010 to April 2011.

Results: Indications for testing with GnRH analogue were evaluation of delayed puberty, diagnosis of precocious puberty, assessment of hormonal suppression in treatment of precocious puberty and micropenis in two, nine, three and one cases, respectively. The results of the test and clinical and radiological parameters were in concordance. The test was also crucial in diagnosing the onset of central precocious puberty in two children with congenital adrenal hyperplasia.

Conclusion: GnRH agonist test is a convenient, safe test that can be performed on an out-patient basis and can help the clinicians in the correct diagnosis and appropriate treatment of various puberty-related disorders.
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http://dx.doi.org/10.4103/2230-8210.95682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3354848PMC
May 2012