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THE IMPORTANCE OF EARLY DIAGNOSIS OF HYPOTHYROIDISM
IN NEWBORNS
Karimova Komila
Student of the Faculty of Medicine
I.A.Alimova
Scientific supervisor
Fergana Medical Institute of Public Health.
https://doi.org/10.5281/zenodo.15165513
Relevance.
Congenital hypothyroidism is one of the most significant
problems in pediatric endocrinology, which can lead to severe neurological
disorders if not treated in a timely manner. The disease is accompanied by a
deficiency of thyroid hormones, which are necessary for the full maturation of
the central nervous system and normal metabolism. Due to the widespread
implementation of early testing programs for newborns, it has become possible
to identify this pathology even before the manifestation of clinical symptoms.
This allows for timely treatment and significantly improves the prognosis. This
paper examines modern aspects of diagnosis, management and prognosis of
congenital hypothyroidism, with an emphasis on the importance of neonatal
screening.
Keywords:
congenital hypothyroidism, newborn screening, thyroid
hormones, early diagnosis, endocrine disorders, neonatology.
Hypothyroidism in newborns is one of the most insidious conditions, since
its manifestations in the first weeks of life may be minimal or absent altogether.
The main cause is a decrease in the secretion of thyroxine (T4) and
triiodothyronine (T3), which disrupts the processes of formation and
maturation of neurons, synaptic transmission and general neuropsychic
development. Without timely correction, these disorders can become
irreversible.
The most common form of congenital hypothyroidism is primary
hypothyroidism, which occurs due to abnormal development or function of the
thyroid gland. Such changes may include agenesis, hypoplasia, or ectopic
localization of the organ. According to the American Academy of Pediatrics
(2023), these forms account for about 90% of all cases of the disease. Less
common forms include secondary and tertiary hypothyroidism, which develop
as a result of pituitary or hypothalamic regulation disorders. In addition, there
are transient forms of the disease caused by iodine deficiency in the mother,
taking antithyroid drugs, or autoimmune processes.
Clinical manifestations of congenital hypothyroidism
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One of the reasons for late detection of the disease is the absence of
pronounced clinical manifestations in the early stages. Possible symptoms
include decreased motor activity, weakness of the sucking reflex, prolonged
jaundice, constipation, dry skin and edema. However, most of these signs appear
only a few weeks after birth, when therapy is already less effective in terms of
neuroprotection.
Thus, relying only on the clinical picture to make a diagnosis is
unacceptable, especially in conditions of limited time to start therapy.
Methods of early diagnosis of congenital hypothyroidism
Currently, the leading method for detecting the disease remains neonatal
screening. In most countries, the analysis is carried out on the 3rd-5th day of life
by taking a drop of blood from the child's heel on filter paper (Guthrie test). In
this case, the main attention is paid to determining the level of thyroid
stimulating hormone (TSH) and free thyroxine (T4). An increase in TSH in
combination with a decrease in T4 indicates the presence of primary
hypothyroidism.
Additional diagnostic methods include thyroid ultrasound, scintigraphy,
and molecular genetic testing, especially in cases of family history or atypical
course.
Modern approaches to treatment.
The main goal of congenital hypothyroidism therapy is the earliest possible
restoration of thyroid hormone levels. For this purpose, sodium levothyroxine
(L-T4) is used at a starting dosage of 10–15 mcg/kg/day. It is extremely
important to begin treatment within the first two weeks of life, which is
confirmed by numerous international studies.
Therapy is monitored based on the level of TSH and free T4:
- first control - 2 weeks after the start of treatment,
- then - every 1-2 months in the first year of life.
The duration of therapy depends on the form of the disease. In case of
transient hypothyroidism, it is possible to stop therapy after 2-3 years, while in
case of persistent hypothyroidism, treatment is carried out for life.
The importance of early diagnosis for prognosis
Timely detection of congenital hypothyroidism and early initiation of
treatment are key factors determining the outcome of the disease. Children who
were prescribed therapy before the 14th day of life demonstrate normal
indicators of cognitive and physical development in the future. In addition, the
incidence of speech and hearing disorders is significantly reduced.
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Thus, the introduction of systematic screening and adherence to treatment
protocols make it possible to achieve significant success in reducing disability
and improving the quality of life of patients.
Conclusions.
Hypothyroidism in newborns is a condition that requires
immediate intervention. The effectiveness of treatment directly depends on the
timing of its initiation. Mass screening, raising awareness among health workers
and parents, and improving diagnostic methods are the basis for reducing
disability among children with congenital hypothyroidism. A promising
direction remains the expansion of molecular genetic testing and
individualization of approaches to therapy.
List of references:
1. American Academy of Pediatrics. Update of newborn screening and therapy
for congenital hypothyroidism. Pediatrics. 2023;151(3):e2022057349.
2. Chung HR, et al. Intellectual outcome of early treated congenital
hypothyroidism: Results from a long-term follow-up study. J Clin Endocrinol
Metab. 2020;105(5):e1811–e1818.
3. Rose SR, Brown RS. Update of newborn screening and therapy for congenital
hypothyroidism. J Clin Endocrinol Metab. 2021;106(5):e2029–e2044.
4. Léger J, Olivieri A, Donaldson M, et al. European Society for Paediatric
Endocrinology consensus guidelines on screening, diagnosis, and management
of congenital hypothyroidism. Horm Res Paediatr. 2021;95(3):1–22.
5. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis.
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