Case Report Archives - Journal of Pediatric Endocrinology and Diabetes

Case Report

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

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

DOI: 10.25259/JPED_44_2022

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p.20-23

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

DOI: 10.25259/JPED_42_2022

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p.24-28

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

DOI: 10.25259/JPED_3_2021

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p.26-29

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

DOI: 10.25259/JPED_5_2023

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p.29-33

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

DOI: 10.25259/JPED_41_2023

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p.31-34

Case Report

Congenital aromatase deficiency – A virilizing masquerade!

Abhishek J. Kulkarni, Poorvi Chandraprakash Agrawal

DOI: 10.25259/JPED_26_2021

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p.31-33

Case Report

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

Dhanya Soodhana Mohan, Rajesh Thaliyil Veettil, Madhava Vijayakumar

DOI: 10.25259/JPED_43_2023

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p.35-39

Case Report

Late presentation of lipoid congenital adrenal hyperplasia in a phenotypic male

Trishya Reddy, Shaila S Bhattacharyya

DOI: 10.25259/JPED_15_2024

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p.40-41

Case Report

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

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

DOI: 10.25259/JPED_45_2022

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p.71-73

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

DOI: 10.25259/JPED_6_2023

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p.74-77

Case Report

A rare case of β-ketothiolase deficiency presenting as mimicker of diabetic ketoacidosis

Bijoy Patra, Shamitha Rangrajan, Sayeeksha Kotekar, Vishal Malhotra

DOI: 10.25259/JPED_9_2023

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p.78-81

Case Report

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

Abhishek Kulkarni, Devika Ramakant Desai, Pankhuri Nakul Kothari

DOI: 10.25259/JPED_5_2022

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p.78-80

Case Report

A case of McCune–Albright syndrome hiding in the bones

Gabrielle Doré-Brabant, Isabelle Rousseau-Nepton

DOI: 10.25259/JPED_22_2022

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p.81-85

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

DOI: 10.25259/JPED_24_2022

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p.86-89

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

DOI: 10.25259/JPED_3_2024

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p.93-97

Case Report

Diabetic striatopathy – A rare manifestation of type 1 diabetes in children – A case report

Reetha Gopinath, Jijesh Alarambil

DOI: 10.25259/JPED_10_2024

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p.98-100

Case Report

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

Akanksha Chirag Parikh, Prathamesh Ramesh Deorukhkar

DOI: 10.25259/JPED_39_2024

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p.101-104

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

DOI: 10.25259/JPED_19_2023

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p.106-109

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

DOI: 10.25259/JPED_40_2023

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p.110-113

Case Report

Acute insulin-induced hypoglycemia in twin neonates

J. Anita Chrisbina, B. Arun Krishnan, Hemchand Prasad

DOI: 10.25259/JPED_39_2023

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p.114-117

Case Report

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

Ana Castelbranco-Silva, Marta Martins, José da Cunha

DOI: 10.25259/JPED_34_2022

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p.131-134

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

DOI: 10.25259/JPED_41_2022

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p.135-138

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

DOI: 10.25259/JPED_41_2024

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p.139-142

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

DOI: 10.25259/JPED_25_2022

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p.139-141

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

DOI: 10.25259/JPED_2_2023

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p.142-144

Case Report

Dent disease type 2 due to OCRL1 mutation in a boy with rickets

Ganesh Jevalikar, Abhyuday Singh Rana, Ambrish Mithal, Sidharth Kumar Sethi

DOI: 10.25259/JPED_46_2024

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p.143-146

Case Report

A novel STAG3 variant associated with primary ovarian insufficiency

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

DOI: 10.25259/JPED_56_2024

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p.147-150

Volume 4 | Issue 3 | September-December 2024