4 free views remaining today

neonatal diabetes mellitus with congenital hypothyroidism

ICD-10 Codes

Related ICD-10:

Description

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is a rare genetic disorder characterized by the combination of two severe conditions:

  • Nonimmune diabetes mellitus: This refers to a type of diabetes that develops in the first few weeks of life, often due to an underlying genetic mutation. In NDH syndrome, this condition is caused by autosomal recessive mutations in the GLIS3 gene [1][6].
  • Congenital hypothyroidism: This is a condition where the thyroid gland does not produce enough thyroid hormone, leading to severe hypothyroidism present at birth. Congenital hypothyroidism can have serious consequences if left untreated, including irreversible neurological deficits [12].

Other features of NDH syndrome may include:

  • Intrauterine growth retardation: This refers to slow growth and development in the womb, which can lead to low birth weight and other complications.
  • Renal parenchymal disease: This includes conditions such as renal cystic dysplasia, where the kidneys are abnormally developed.
  • Hepatic disease: Liver disease is a common feature of NDH syndrome, which can progress to hepatic fibrosis.

NDH syndrome is caused by mutations in the GLIS3 gene, which plays a crucial role in regulating

Additional Characteristics

  • Congenital hypothyroidism
  • Intrauterine growth retardation
  • Nonimmune diabetes mellitus
  • Renal parenchymal disease
  • Hepatic disease

Signs and Symptoms

Neonatal diabetes mellitus (NDM) with congenital hypothyroidism is a rare condition that affects newborn babies. The signs and symptoms of this condition can be quite specific, and it's essential to recognize them early on for proper diagnosis and treatment.

Common Symptoms:

  • Poor feeding: Babies with NDM may have difficulty feeding due to high blood sugar levels, which can lead to vomiting and diarrhea.
  • Jaundice: Yellowing of the skin and eyes (jaundice) is a common symptom in newborns with NDM.
  • Lethargy: Newborns with NDM may appear lethargic or sleepy due to high blood sugar levels.
  • Feeding problems: Babies with NDM may have difficulty feeding, which can lead to dehydration and electrolyte imbalances.
  • Large fontanelle: A soft spot on top of the baby's head (fontanelle) may be larger than usual in babies with NDM.
  • Dry skin: Newborns with NDM may have dry, itchy skin due to high blood sugar levels.
  • Hoarse cry: Babies with NDM may have a hoarse or weak cry.

Additional Symptoms:

  • Constipation: Some newborns with NDM may experience constipation due to high blood sugar levels.
  • Dry, brittle hair: Newborns with NDM may have dry, brittle hair due to hormonal imbalances.
  • Low muscle tone: Babies with NDM may have low muscle tone, which can make it difficult for them to move or respond to stimuli.

Important Note:

It's essential to seek medical attention immediately if you suspect that your newborn baby is experiencing any of these symptoms. Early diagnosis and treatment are crucial in managing neonatal diabetes mellitus with congenital hypothyroidism.

References:

  • [1] by PK Boddu · 2022 · Cited by 4 — We report a preterm female neonate with coarse facial features and hyperglycemia, later diagnosed with neonatal diabetes mellitus, congenital ...
  • [3] Yellowing of the skin and eyes (jaundice) · Lethargy · Feeding problems · Large fontanelle (the soft spot on top of a baby's head) · Dry skin · A hoarse-sounding cry.
  • [4] by E Sarıkaya · 2023 · Cited by 8 — Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene.
  • [5] Symptoms · Poor feeding, choking episodes · Constipation · Dry, brittle hair · Hoarse cry · Jaundice (skin and whites of the eyes look yellow) · Lack of muscle tone ( ...
  • [8] Yellowing of the skin and eyes (jaundice) · Lethargy · Feeding problems · Large fontanelle (soft spot on top of baby's head · Dry skin · A hoarse-sounding cry.
  • [9] by PK Boddu · 2022 · Cited by 4 — We report a preterm female neonate with coarse facial features and hyperglycemia, later diagnosed with neonatal diabetes mellitus, congenital ...

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Neonatal Diabetes Mellitus with Congenital Hypothyroidism

Neonatal diabetes mellitus (NDM) with congenital hypothyroidism is a rare condition that requires prompt diagnosis and treatment. The following diagnostic tests are used to confirm the presence of this condition:

  • Blood tests: Blood tests are done to check thyroid function, including measurements of T4 and TSH levels [8]. A repeat measurement of T4 and TSH will be done on blood drawn from a vein to confirm the diagnosis of hypothyroidism [4].
  • Newborn screening (NBS): NBS is recommended when a baby is 3 days old, and testing should be performed before discharge or within 7 days of birth [3]. Newborn thyroid screening tests are carried out on heel-prick blood that is spotted on special filter paper cards [5].
  • Sequence analysis: Sequence analysis of the entire coding region may be used as a clinical molecular genetics test for NDM with congenital hypothyroidism [2].

These diagnostic tests help to confirm the presence of neonatal diabetes mellitus with congenital hypothyroidism, which is an autosomal recessive disorder characterized by early onset diabetes mellitus requiring insulin treatment and congenital hypothyroidism [9].

Additional Diagnostic Tests

  • Blood tests
  • Sequence analysis
  • Newborn screening (NBS)

Treatment

Treatment Overview

Neonatal diabetes mellitus (NDM) is a rare condition that affects newborns, characterized by high blood sugar levels due to insulin deficiency. Congenital hypothyroidism (CH) is another condition where the thyroid gland doesn't produce enough hormones. When both conditions coexist, treatment involves managing both diabetes and hypothyroidism.

Medications Used

  • Levothyroxine (L-T4): This hormone replacement therapy is used to treat congenital hypothyroidism. It helps increase the level of hormones in the body.
  • Insulin: Subcutaneous insulin therapy is often required to manage diabetes mellitus, especially in cases where the pancreas doesn't produce enough insulin.

Treatment Approach

The treatment approach for NDM with CH involves:

  • Administering levothyroxine (L-T4) to replace thyroid hormones and regulate metabolism.
  • Managing blood sugar levels through subcutaneous insulin therapy, which may involve:
    • Initial intravenous insulin to rapidly control blood glucose levels.
    • Subcutaneous insulin therapy for long-term management.

Key Considerations

  • Regular blood tests are crucial to monitor thyroid hormone levels and adjust L-T4 doses accordingly.
  • The optimal starting dose of levothyroxine should be tailored to the severity of hypothyroidism, as recommended by experts (8).
  • High doses of levothyroxine may be necessary in some cases to achieve rapid normalization of free T4 and TSH levels (6).

References

  1. PK Boddu et al. (2022) - Subcutaneous insulin therapy is often required for NDM. [1]
  2. SA Bowden et al. (2023) - A high initial L-T4 dose can normalize serum T4 in 3 days and TSH by two weeks of therapy. [2][19]
  3. May 2, 2023 - Only levothyroxine (L-T4) is recommended for treatment of CH. [3]
  4. Treatment may include taking thyroid hormones to increase the level of hormones in the body. [4]
  5. SS Pachapure et al. (2022) - Levothyroxine was initiated at a dose of 25 µg during hospital stay. [5]
  6. CS Schömig et al. (2018) - An intravenous levothyroxine dose of approximately 50% typical PO dosing is effective in providing rapid normalization of free T4 and TSH. [6]
  7. SE Pinney et al. - Outline for managing NDM, including insulin therapy. [7]
  8. SH LaFranchi et al. (2011) - Select an optimal starting dose of levothyroxine in infants with CH. [8]
  9. Oct 3, 2024 - Thyroxine is usually given to treat hypothyroidism. [9]
  10. Thyroxine is usually given to treat hypothyroidism. [10]

Recommended Medications

  • Levothyroxine (L-T4)
  • Insulin

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Neonatal diabetes mellitus (NDM) with congenital hypothyroidism is a rare genetic disorder that can be challenging to diagnose. A differential diagnosis for this condition would involve considering various other possible causes of the symptoms.

Possible Differential Diagnoses:

  • Beckwith-Wiedemann Syndrome: This is a genetic disorder characterized by overgrowth, developmental delays, and an increased risk of cancer. Some individuals with Beckwith-Wiedemann Syndrome may also experience hypothyroidism ([3]).
  • Goiter: A goiter refers to an enlargement of the thyroid gland, which can lead to hypothyroidism. In some cases, a goiter can be caused by congenital hypothyroidism ([2]).
  • Iodine Deficiency: Iodine deficiency is a common cause of hypothyroidism worldwide. However, it is less likely to be associated with neonatal diabetes mellitus ([3]).
  • Panhypopituitarism: This is a rare condition where the pituitary gland does not produce enough hormones, leading to various hormonal imbalances. Panhypopituitarism can cause hypothyroidism and other endocrine disorders ([3]).
  • Pediatric Hypopituitarism: Similar to panhypopituitarism, pediatric hypopituitarism refers to a condition where the pituitary gland does not produce enough hormones in children. This can lead to various hormonal imbalances, including hypothyroidism ([3]).

Key Points:

  • A differential diagnosis for neonatal diabetes mellitus with congenital hypothyroidism should consider other possible causes of the symptoms.
  • Beckwith-Wiedemann Syndrome, goiter, iodine deficiency, panhypopituitarism, and pediatric hypopituitarism are potential differential diagnoses to consider.

References:

[1] PK Boddu (2022) - A case report of neonatal diabetes mellitus due to a compound heterozygous mutation in GLIS3 gene. [2] Nov 16, 2022 - NDH is characterized by nonimmune diabetes mellitus with variable sensitivity to insulin, severe congenital hypothyroidism, and symmetrical... [3] May 2, 2023 - Differential Diagnoses · Beckwith-Wiedemann Syndrome · Goiter · Iodine Deficiency · Panhypopituitarism · Pediatric Hypopituitarism · Thyroxine-Binding...

Additional Differential Diagnoses

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_1623
owl#annotatedSource
t341231
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0060638
core#notation
DOID:0060638
oboInOwl#hasDbXref
ORDO:79118
oboInOwl#hasExactSynonym
NDH syndrome
rdf-schema#label
neonatal diabetes mellitus with congenital hypothyroidism
IAO_0000115
A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.
rdf-schema#subClassOf
t341122
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#DO_rare_slim
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000148
RO_0004019
http://purl.obolibrary.org/obo/HP_0001197
relatedICD
http://example.org/icd10/E07.9
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.