Next Article in Journal
The Effect of Timing and Methods for the Diagnosis of Gestational Diabetes Mellitus on Obstetric Complications
Next Article in Special Issue
Management of Postpartum Extensive Venous Thrombosis after Second Pregnancy
Previous Article in Journal
Is the Effect of the COVID-19 Vaccine on Heart Rate Variability Permanent?
Previous Article in Special Issue
Assessment of the Particularities of Thrombophilia in the Management of Pregnant Women in the Western Part of Romania
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Medicina
Volume 59
Issue 5
10.3390/medicina59050856
medicina-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Case Report

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report

by
Ioana Rosca
1,2,
Alina Turenschi
3,
Alin Nicolescu
4,
Andreea Teodora Constantin
5,6,
Adina Maria Canciu
3,
Alice Denisa Dica
7,
Elvira Bratila
5,8,
Ciprian Andrei Coroleuca
5,8,* and
Leonard Nastase
5,9
1
Neonatology Department, Clinical Hospital of Obstetrics and Gynecology “Prof. Dr. P.Sirbu”, 060251 Bucharest, Romania
2
Faculty of Midwifery and Nursery, University of Medicine and Pharmacy “Carol Davila”, 020021 Bucharest, Romania
3
Emergency Clinical Hospital for Children “Grigore Alexandrescu”, 011743 Bucharest, Romania
4
Cardiology Department, Emergency Clinical Hospital for Children “M.S. Curie”, 41451 Bucharest, Romania
5
Faculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 020021 Bucharest, Romania
6
Pediatrics Department, National Institute for Mother and Child Health “Alessandrescu-Rusescu”, 020395 Bucharest, Romania
7
Pediatric Neurology Department, Clinical Psychiatric Hospital “Al. Obregia”, 041914 Bucharest, Romania
8
Obstetrics and Gynecology Department, Clinical Hospital of Obstetrics and Gynecology “Prof. Dr. P.Sirbu”, 060251 Bucharest, Romania
9
Neonatology Department, National Institute for Mother and Child Health “Alessandrescu-Rusescu”, 011061 Bucharest, Romania
*
Author to whom correspondence should be addressed.
Medicina 2023, 59(5), 856; https://doi.org/10.3390/medicina59050856
Submission received: 3 March 2023 / Revised: 17 April 2023 / Accepted: 24 April 2023 / Published: 28 April 2023
(This article belongs to the Special Issue Diagnosis, Evaluation, and Management of Diseases during Pregnancy)
Browse Figures
Review Reports Versions Notes

Abstract

Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematologic disorders, and many other health issues. We present the case of a newborn with Down syndrome. The infant was a female, born at term through c-section. She was diagnosed before birth with a complex congenital malformation. In the first few days of life, the newborn was stable. In her 10th day of life, she started to show respiratory distress, persistent respiratory acidosis, and persistent severe hyponatremia, and required intubation and mechanical ventilation. Due to her rapid deterioration our team decided to do a screening for metabolic disorders. The screening was positive for heterozygous Duarte variant galactosemia. Further testing on possible metabolic and endocrinologic issues that can be associated with Down syndrome was performed, leading to hypoaldosteronism and hypothyroidism diagnoses. The case was challenging for our team because the infant also had multiple metabolic and hormonal deficiencies. Newborns with Down syndrome often require a multidisciplinary team, as besides congenital cardiac malformations they can have metabolic and hormonal deficiencies that can negatively impact their short- and long-term prognosis.
Keywords: Down syndrome; newborn; galactosemia; hypothyroidism; hypoaldosteronism; multidisciplinary team Down syndrome; newborn; galactosemia; hypothyroidism; hypoaldosteronism; multidisciplinary team

Share and Cite

MDPI and ACS Style

Rosca, I.; Turenschi, A.; Nicolescu, A.; Constantin, A.T.; Canciu, A.M.; Dica, A.D.; Bratila, E.; Coroleuca, C.A.; Nastase, L. Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report. Medicina 2023, 59, 856. https://doi.org/10.3390/medicina59050856

AMA Style

Rosca I, Turenschi A, Nicolescu A, Constantin AT, Canciu AM, Dica AD, Bratila E, Coroleuca CA, Nastase L. Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report. Medicina. 2023; 59(5):856. https://doi.org/10.3390/medicina59050856

Chicago/Turabian Style

Rosca, Ioana, Alina Turenschi, Alin Nicolescu, Andreea Teodora Constantin, Adina Maria Canciu, Alice Denisa Dica, Elvira Bratila, Ciprian Andrei Coroleuca, and Leonard Nastase. 2023. "Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report" Medicina 59, no. 5: 856. https://doi.org/10.3390/medicina59050856

APA Style

Rosca, I., Turenschi, A., Nicolescu, A., Constantin, A. T., Canciu, A. M., Dica, A. D., Bratila, E., Coroleuca, C. A., & Nastase, L. (2023). Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report. Medicina, 59(5), 856. https://doi.org/10.3390/medicina59050856

Article Metrics

Back to TopTop