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All | Book Review | Case Report | Case Series | Clinical Images | Clinical Images/Spotters | Current Issue | Editor’s Page | Editorial | Editorial Commentary | Fellow’s Corner | Guest Editorial | Images (Radiology/Radioisotope Scans/Fluoroscopy Images, etc.) | Invited Editorial Commentary | Invited Review | Invited Review – Genetics for the Pediatric Endocrinologist 3 | Invited Review – Genetics for the Pediatric Endocrinologist 4 | Invited Review – Genetics for the Pediatric Endocrinologist 5 | Invited Review – Genetics for the Pediatric Endocrinologists – 7 | Letter to Editor | Mini Review | News | News ISPAE elections | Obituary | Original Article | Ped-Endo-Journal Scan | Pediatric Endocrine Trainees Section (Open-Forum) | President’s Page | Review Article | Review Article – Genetics for the Pediatric Endocrinologist – 10 | Spotters | Systematic Review

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Case Report
Rare presentation of pituitary stalk lipoma as central precocious puberty in a girl

Sweekruti Jena, Ipsita Mishra, Anoj Kumar Baliarsinha, Debarchan Jena

J Pediatr Endocrinol Diabetes 3:1; 20-23

DOI: 10.25259/JPED_44_2022

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Case Report
Rare presentation of pituitary stalk lipoma as central precocious puberty in a girl
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Sweekruti Jena, Ipsita Mishra, Anoj Kumar Baliarsinha, Debarchan Jena

J Pediatr Endocrinol Diabetes 3:1; 20-23

DOI: 10.25259/JPED_44_2022

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Case Report
Challenges in the management of hyperinsulinemic hypoglycemia in a preterm neonate – A case report and literature review

K. G. Sachin, Umamaheswari Balakrishnan, Prakash Amboiram, Prakash Agarwal, Shriraam Mahadevan, Leena Dennis Joseph

J Pediatr Endocrinol Diabetes 3:1; 24-28

DOI: 10.25259/JPED_42_2022

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Case Report
Challenges in the management of hyperinsulinemic hypoglycemia in a preterm neonate – A case report and literature review
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K. G. Sachin, Umamaheswari Balakrishnan, Prakash Amboiram, Prakash Agarwal, Shriraam Mahadevan, Leena Dennis Joseph

J Pediatr Endocrinol Diabetes 3:1; 24-28

DOI: 10.25259/JPED_42_2022

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Case Report
Pseudohypoparathyroidism-Ib due to novel heterozygous stop gain mutation in exon 8 of STX16 gene: A case report

Abhishek J. Kulkarni, Poorvi Chandraprakash Agrawal, Aditi Shah, Oneza Kothawala

J Pediatr Endocrinol Diabetes 1:1; 26-29

DOI: 10.25259/JPED_3_2021

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Case Report
Pseudohypoparathyroidism-Ib due to novel heterozygous stop gain mutation in exon 8 of STX16 gene: A case report
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Abhishek J. Kulkarni, Poorvi Chandraprakash Agrawal, Aditi Shah, Oneza Kothawala

J Pediatr Endocrinol Diabetes 1:1; 26-29

DOI: 10.25259/JPED_3_2021

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Case Report
Congenital leptin receptor deficiency: A novel leptin receptor gene mutation in an Indian family producing severe early-onset monogenic obesity

Prashant Prakash Patil, Sakina Rajagara, Sachin Dhamankar, Maroti Yalamgonde, Pratik Thakare

J Pediatr Endocrinol Diabetes 3:1; 29-33

DOI: 10.25259/JPED_5_2023

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Case Report
Congenital leptin receptor deficiency: A novel leptin receptor gene mutation in an Indian family producing severe early-onset monogenic obesity
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Prashant Prakash Patil, Sakina Rajagara, Sachin Dhamankar, Maroti Yalamgonde, Pratik Thakare

J Pediatr Endocrinol Diabetes 3:1; 29-33

DOI: 10.25259/JPED_5_2023

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Journal of Pediatric Endocrinology and Diabetes
Case Report
Clinical characteristics and management of gonadotropin-independent precocious puberty in McCune–Albright syndrome in children – A case series from a tertiary care center, Sri Lanka

Dinendra Nishadinie Siriwardhane, Chamidri Naotunna, Thabitha Hoole, Navoda Atapattu

J Pediatr Endocrinol Diabetes 4:1; 31-34

DOI: 10.25259/JPED_41_2023

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Case Report
Clinical characteristics and management of gonadotropin-independent precocious puberty in McCune–Albright syndrome in children – A case series from a tertiary care center, Sri Lanka
Journal of Pediatric Endocrinology and Diabetes

Dinendra Nishadinie Siriwardhane, Chamidri Naotunna, Thabitha Hoole, Navoda Atapattu

J Pediatr Endocrinol Diabetes 4:1; 31-34

DOI: 10.25259/JPED_41_2023

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Case Report
Refractory rickets: A case of X-linked hypophosphatemic rickets (PHEX gene variation)

Dhanya Soodhana Mohan, Rajesh Thaliyil Veettil, Madhava Vijayakumar

J Pediatr Endocrinol Diabetes 4:1; 35-39

DOI: 10.25259/JPED_43_2023

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Case Report
Refractory rickets: A case of X-linked hypophosphatemic rickets (PHEX gene variation)
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Dhanya Soodhana Mohan, Rajesh Thaliyil Veettil, Madhava Vijayakumar

J Pediatr Endocrinol Diabetes 4:1; 35-39

DOI: 10.25259/JPED_43_2023

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Journal of Pediatric Endocrinology and Diabetes
Case Report
Wolfram syndrome type 1 in siblings – A case report

Raquel Suay Romero, María del Carmen De Mingo Alemany, Maria Mansó Borrás, María Francisca Moreno Macián, Sara León Cariñena, Ana Herrero García

J Pediatr Endocrinol Diabetes 5:1; 38-40

DOI: 10.25259/JPED_14_2025

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Case Report
Wolfram syndrome type 1 in siblings – A case report
Journal of Pediatric Endocrinology and Diabetes

Raquel Suay Romero, María del Carmen De Mingo Alemany, Maria Mansó Borrás, María Francisca Moreno Macián, Sara León Cariñena, Ana Herrero García

J Pediatr Endocrinol Diabetes 5:1; 38-40

DOI: 10.25259/JPED_14_2025

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Case Report
Improvement of young-onset dilated cardiomyopathy by successful resection of pheochromocytoma

Pushpender Khatana, Parjeet Kaur, Navein John Thomas John, Vaibhav Joshi, Anand Rajendran

J Pediatr Endocrinol Diabetes 6:1; 57-61

DOI: 10.25259/JPED_57_2025

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Case Report
Improvement of young-onset dilated cardiomyopathy by successful resection of pheochromocytoma
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Pushpender Khatana, Parjeet Kaur, Navein John Thomas John, Vaibhav Joshi, Anand Rajendran

J Pediatr Endocrinol Diabetes 6:1; 57-61

DOI: 10.25259/JPED_57_2025

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Case Report
Complete androgen insensitivity syndrome: A tale of two sisters with primary amenorrhea

Sweekruti Jena, Ipsita Mishra, Anoj Kumar Baliarsinha, Debarchan Jena

J Pediatr Endocrinol Diabetes 3:2; 71-73

DOI: 10.25259/JPED_45_2022

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Case Report
Complete androgen insensitivity syndrome: A tale of two sisters with primary amenorrhea
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Sweekruti Jena, Ipsita Mishra, Anoj Kumar Baliarsinha, Debarchan Jena

J Pediatr Endocrinol Diabetes 3:2; 71-73

DOI: 10.25259/JPED_45_2022

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Case Report
Unique presentation of Mauriac syndrome with associated celiac disease in an adolescent with type 1 diabetes mellitus: A case report

Prerna Priyadarshini, Vijay Jaiswal, Vikas Agarwal, Surabhi Kumari

J Pediatr Endocrinol Diabetes 3:2; 74-77

DOI: 10.25259/JPED_6_2023

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Case Report
Unique presentation of Mauriac syndrome with associated celiac disease in an adolescent with type 1 diabetes mellitus: A case report
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Prerna Priyadarshini, Vijay Jaiswal, Vikas Agarwal, Surabhi Kumari

J Pediatr Endocrinol Diabetes 3:2; 74-77

DOI: 10.25259/JPED_6_2023

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Journal of Pediatric Endocrinology and Diabetes
Case Report
A rare case of β-ketothiolase deficiency presenting as mimicker of diabetic ketoacidosis

Bijoy Patra, Shamitha Rangrajan, Sayeeksha Kotekar, Vishal Malhotra

J Pediatr Endocrinol Diabetes 3:2; 78-81

DOI: 10.25259/JPED_9_2023

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Case Report
A rare case of β-ketothiolase deficiency presenting as mimicker of diabetic ketoacidosis
Journal of Pediatric Endocrinology and Diabetes

Bijoy Patra, Shamitha Rangrajan, Sayeeksha Kotekar, Vishal Malhotra

J Pediatr Endocrinol Diabetes 3:2; 78-81

DOI: 10.25259/JPED_9_2023

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Case Report
Allan-Herndon-Dudley syndrome: Report of a novel pathogenic variant in MCT8 gene

Abhishek Kulkarni, Devika Ramakant Desai, Pankhuri Nakul Kothari

J Pediatr Endocrinol Diabetes 2:2; 78-80

DOI: 10.25259/JPED_5_2022

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Case Report
Allan-Herndon-Dudley syndrome: Report of a novel pathogenic variant in MCT8 gene
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Abhishek Kulkarni, Devika Ramakant Desai, Pankhuri Nakul Kothari

J Pediatr Endocrinol Diabetes 2:2; 78-80

DOI: 10.25259/JPED_5_2022

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Case Report
Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome caused by GLIS3 mutation: A case report and review of literature

Shaila Sanjay Pachapure, Shriharsha Badiger, Satish Tadakanahalli, Elisa De Franco, Aishwarya Manthale, Vijay Kulkarni

J Pediatr Endocrinol Diabetes 2:2; 86-89

DOI: 10.25259/JPED_24_2022

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Case Report
Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome caused by GLIS3 mutation: A case report and review of literature
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Shaila Sanjay Pachapure, Shriharsha Badiger, Satish Tadakanahalli, Elisa De Franco, Aishwarya Manthale, Vijay Kulkarni

J Pediatr Endocrinol Diabetes 2:2; 86-89

DOI: 10.25259/JPED_24_2022

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Case Report
Neurodevelopmental delay as the initial presentation of thyroid hormone resistance syndrome

Esther Serisuelo Meneu, Maria Del Carmen De Mingo Alemany, Francisco Javier Maravall Royo, Francisca Moreno Macián, Pablo Abellán Galiana, Agustín Ángel Merchante Alfaro

J Pediatr Endocrinol Diabetes 4:2; 93-97

DOI: 10.25259/JPED_3_2024

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Case Report
Neurodevelopmental delay as the initial presentation of thyroid hormone resistance syndrome
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Esther Serisuelo Meneu, Maria Del Carmen De Mingo Alemany, Francisco Javier Maravall Royo, Francisca Moreno Macián, Pablo Abellán Galiana, Agustín Ángel Merchante Alfaro

J Pediatr Endocrinol Diabetes 4:2; 93-97

DOI: 10.25259/JPED_3_2024

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Case Report
Don’t judge a book by its cover – A rare case report of 46,XY disorder of sex development

Haripriya, Tejasvi Sheshadri, Antony Robert Charles, Vidya Bangalore Umashankar

J Pediatr Endocrinol Diabetes 5:2; 99-101

DOI: 10.25259/JPED_23_2025

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Case Report
Don’t judge a book by its cover – A rare case report of 46,XY disorder of sex development
Article figure

Haripriya, Tejasvi Sheshadri, Antony Robert Charles, Vidya Bangalore Umashankar

J Pediatr Endocrinol Diabetes 5:2; 99-101

DOI: 10.25259/JPED_23_2025

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Case Report
Hypopituitarism secondary to pediatric traumatic brain injury – A need for active vigilance

Akanksha Chirag Parikh, Prathamesh Ramesh Deorukhkar

J Pediatr Endocrinol Diabetes 4:2; 101-104

DOI: 10.25259/JPED_39_2024

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Case Report
Hypopituitarism secondary to pediatric traumatic brain injury – A need for active vigilance
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Akanksha Chirag Parikh, Prathamesh Ramesh Deorukhkar

J Pediatr Endocrinol Diabetes 4:2; 101-104

DOI: 10.25259/JPED_39_2024

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Journal of Pediatric Endocrinology and Diabetes
Case Report
From crisis to catch-up: Reversing salt-wasting in an Indian infant with CMO II deficiency – A case report

Bhargav Girishbhai Patel, Ruchi Aneesh Shah

J Pediatr Endocrinol Diabetes 5:2; 102-104

DOI: 10.25259/JPED_40_2025

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Case Report
From crisis to catch-up: Reversing salt-wasting in an Indian infant with CMO II deficiency – A case report
Journal of Pediatric Endocrinology and Diabetes

Bhargav Girishbhai Patel, Ruchi Aneesh Shah

J Pediatr Endocrinol Diabetes 5:2; 102-104

DOI: 10.25259/JPED_40_2025

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Case Report
INSR gene mutation masquerading as type 1 diabetes – A case report

Ruchi Aneesh Shah, Shalmi Mehta, Jaikumar B. Contractor, Viswanathan Mohan, Venkatesan Radha, Pratik Shah

J Pediatr Endocrinol Diabetes 5:2; 105-109

DOI: 10.25259/JPED_31_2025

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Case Report
INSR gene mutation masquerading as type 1 diabetes – A case report
Article figure

Ruchi Aneesh Shah, Shalmi Mehta, Jaikumar B. Contractor, Viswanathan Mohan, Venkatesan Radha, Pratik Shah

J Pediatr Endocrinol Diabetes 5:2; 105-109

DOI: 10.25259/JPED_31_2025

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Case Report
Pseudohypoparathyroidism type 1A and Albright hereditary osteodystrophy: A genetic conundrum of multiple hormonal resistances in a family

Anshika Mishra, Sonali Singh, Prakhar Mishra

J Pediatr Endocrinol Diabetes 3:3; 106-109

DOI: 10.25259/JPED_19_2023

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Case Report
Pseudohypoparathyroidism type 1A and Albright hereditary osteodystrophy: A genetic conundrum of multiple hormonal resistances in a family
Article figure

Anshika Mishra, Sonali Singh, Prakhar Mishra

J Pediatr Endocrinol Diabetes 3:3; 106-109

DOI: 10.25259/JPED_19_2023

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Journal of Pediatric Endocrinology and Diabetes
Case Report
Postprandial hypoinsulinemic hypoglycemia as a clue to hidden purging behavior in an adolescent boy with disordered eating

Sirisha Kusuma Boddu, Chandra Shekhar Koyalakonda, Nithya Narasimha Murthy

J Pediatr Endocrinol Diabetes 3:3; 110-113

DOI: 10.25259/JPED_40_2023

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Case Report
Postprandial hypoinsulinemic hypoglycemia as a clue to hidden purging behavior in an adolescent boy with disordered eating
Journal of Pediatric Endocrinology and Diabetes

Sirisha Kusuma Boddu, Chandra Shekhar Koyalakonda, Nithya Narasimha Murthy

J Pediatr Endocrinol Diabetes 3:3; 110-113

DOI: 10.25259/JPED_40_2023

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Case Report
Hypopituitarism in a preterm infant with history of congenital syphilis and intraventricular hemorrhage

Ana Castelbranco-Silva, Marta Martins, José da Cunha

J Pediatr Endocrinol Diabetes 2:3; 131-134

DOI: 10.25259/JPED_34_2022

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Case Report
Hypopituitarism in a preterm infant with history of congenital syphilis and intraventricular hemorrhage
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Ana Castelbranco-Silva, Marta Martins, José da Cunha

J Pediatr Endocrinol Diabetes 2:3; 131-134

DOI: 10.25259/JPED_34_2022

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Case Report
A novel p.Leu197Pro homozygous variant in HSD3B2 as a cause of 46,XY DSD with hyperpigmentation in an infant

Borra Rajesh Yadav, Aswini Machiraju, Navya Sruthi, Mounika Anitha Ch, Jayanthy Ramesh

J Pediatr Endocrinol Diabetes 2:3; 135-138

DOI: 10.25259/JPED_41_2022

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Case Report
A novel p.Leu197Pro homozygous variant in HSD3B2 as a cause of 46,XY DSD with hyperpigmentation in an infant
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Borra Rajesh Yadav, Aswini Machiraju, Navya Sruthi, Mounika Anitha Ch, Jayanthy Ramesh

J Pediatr Endocrinol Diabetes 2:3; 135-138

DOI: 10.25259/JPED_41_2022

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Case Report
Pituitary stalk interruption with multiple pituitary hormone deficiencies associated with a roundabout guidance receptor 1 gene mutation

Shamkiran, Tejasvi Sheshadri, M. U. Anil

J Pediatr Endocrinol Diabetes 4:3; 139-142

DOI: 10.25259/JPED_41_2024

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Case Report
Pituitary stalk interruption with multiple pituitary hormone deficiencies associated with a roundabout guidance receptor 1 gene mutation
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Shamkiran, Tejasvi Sheshadri, M. U. Anil

J Pediatr Endocrinol Diabetes 4:3; 139-142

DOI: 10.25259/JPED_41_2024

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Case Report
Asymptomatic parathyroid adenoma in mother as a cause of late-onset persistent hypocalcemia in a newborn

Shalini Verma, Akanksha D. Srivastava, Shalini Tripathi, Mala Kumar

J Pediatr Endocrinol Diabetes 2:3; 139-141

DOI: 10.25259/JPED_25_2022

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Case Report
Asymptomatic parathyroid adenoma in mother as a cause of late-onset persistent hypocalcemia in a newborn
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Shalini Verma, Akanksha D. Srivastava, Shalini Tripathi, Mala Kumar

J Pediatr Endocrinol Diabetes 2:3; 139-141

DOI: 10.25259/JPED_25_2022

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Case Report
Those blue eyes; an eye opener – A rare case report of Marshall-Smith syndrome

Amina Shamsudeen, Veena Viswambharan Nair, Kamala Swarnam, Parameswaran Madhavachandran Nair, Mili Thomas, Gopika Sekhar Remadevi

J Pediatr Endocrinol Diabetes 2:3; 142-144

DOI: 10.25259/JPED_2_2023

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Case Report
Those blue eyes; an eye opener – A rare case report of Marshall-Smith syndrome
Article figure

Amina Shamsudeen, Veena Viswambharan Nair, Kamala Swarnam, Parameswaran Madhavachandran Nair, Mili Thomas, Gopika Sekhar Remadevi

J Pediatr Endocrinol Diabetes 2:3; 142-144

DOI: 10.25259/JPED_2_2023

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Journal of Pediatric Endocrinology and Diabetes
Case Report
A novel STAG3 variant associated with primary ovarian insufficiency

Md Ejaz Alam, Pratima Jasti, Mohammad Hayat Bhat, Mohammad Salem Baba, Neha Fatima

J Pediatr Endocrinol Diabetes 4:3; 147-150

DOI: 10.25259/JPED_56_2024

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Case Report
A novel STAG3 variant associated with primary ovarian insufficiency
Journal of Pediatric Endocrinology and Diabetes

Md Ejaz Alam, Pratima Jasti, Mohammad Hayat Bhat, Mohammad Salem Baba, Neha Fatima

J Pediatr Endocrinol Diabetes 4:3; 147-150

DOI: 10.25259/JPED_56_2024

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Journal of Pediatric Endocrinology and Diabetes
Case Report
Steroid metabolite cross-reactivity leading to diagnostic dilemma in a male infant with salt-wasting crisis: A case report

Vuppalapati Vamsi Sivarama Raju, Sirisha Kusuma Boddu, Chaitanya Varma, Gokul Nath Arjunan, Gopala Krishnam Raju Mudunuri

J Pediatr Endocrinol Diabetes 5:3; 157-160

DOI: 10.25259/JPED_53_2025

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Case Report
Steroid metabolite cross-reactivity leading to diagnostic dilemma in a male infant with salt-wasting crisis: A case report
Journal of Pediatric Endocrinology and Diabetes

Vuppalapati Vamsi Sivarama Raju, Sirisha Kusuma Boddu, Chaitanya Varma, Gokul Nath Arjunan, Gopala Krishnam Raju Mudunuri

J Pediatr Endocrinol Diabetes 5:3; 157-160

DOI: 10.25259/JPED_53_2025

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Journal of Pediatric Endocrinology and Diabetes
Case Report
An unusual presentation of familial glucocorticoid deficiency type 2 with tall stature: A case report

Richa Arora, Seema Thakur, Nishant Mittal

J Pediatr Endocrinol Diabetes 5:3; 161-164

DOI: 10.25259/JPED_67_2025

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Case Report
An unusual presentation of familial glucocorticoid deficiency type 2 with tall stature: A case report
Journal of Pediatric Endocrinology and Diabetes

Richa Arora, Seema Thakur, Nishant Mittal

J Pediatr Endocrinol Diabetes 5:3; 161-164

DOI: 10.25259/JPED_67_2025

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Case Report
Early tendon xanthomas in a breastfed toddler with sitosterolemia misdiagnosed as familial hypercholesterolemia: Successful treatment with ezetimibe

Anukriti Agnihotry, Aditi Chahal, Gandharav Pahuja, Sarthak Chakrabarti, Prateek Kumar Panda, Indar Kumar Sharawat

J Pediatr Endocrinol Diabetes 5:3; 165-168

DOI: 10.25259/JPED_69_2025

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Case Report
Early tendon xanthomas in a breastfed toddler with sitosterolemia misdiagnosed as familial hypercholesterolemia: Successful treatment with ezetimibe
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Anukriti Agnihotry, Aditi Chahal, Gandharav Pahuja, Sarthak Chakrabarti, Prateek Kumar Panda, Indar Kumar Sharawat

J Pediatr Endocrinol Diabetes 5:3; 165-168

DOI: 10.25259/JPED_69_2025

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