Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
| Title: | Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome. |
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| Authors: | Nikolaou M; Division of Endocrinology, Metabolism, and Diabetes, First Department of Pediatrics of the Medical School of Athens, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece. nicmichaela@gmail.com.; Vasilakis IA; Division of Endocrinology, Metabolism, and Diabetes, First Department of Pediatrics of the Medical School of Athens, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Diseases of Childhood, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Tilemis FN; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Zellos A; First Department of Pediatrics of the Medical School of Athens, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Lykopoulou E; First Department of Pediatrics of the Medical School of Athens, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Kanaka-Gantenbein C; Division of Endocrinology, Metabolism, and Diabetes, First Department of Pediatrics of the Medical School of Athens, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; First Department of Pediatrics of the Medical School of Athens, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece. |
| Source: | Hormones (Athens, Greece) [Hormones (Athens)] 2023 Sep; Vol. 22 (3), pp. 515-520. Date of Electronic Publication: 2023 Jul 26. |
| Publication Type: | Case Reports; Journal Article; Review |
| Language: | English |
| Journal Info: | Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2520-8721 (Electronic) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE |
| Imprint Name(s): | Publication: : [Cham] : Springer International Publishing; Original Publication: Athens, Greece : Hellenic Endocrine Society, [2002]- |
| MeSH Terms: | Non-alcoholic Fatty Liver Disease*/drug therapy ; Congenital Hypothyroidism*/complications ; Congenital Hypothyroidism*/diagnosis ; Congenital Hypothyroidism*/drug therapy ; Infant, Newborn, Diseases*; Hepatomegaly/drug therapy ; Fetal Macrosomia/drug therapy ; Thyroxine/therapeutic use ; Immunoglobulins/genetics ; Membrane Proteins/genetics ; Infant ; Adult ; Infant, Newborn ; Female ; Humans ; Male ; Syndrome ; Thyrotropin |
| Abstract: | Purpose: IGSF1 deficiency syndrome (immunoglobulin superfamily member 1) is considered the most common sex-linked cause of secondary congenital hypothyroidism and is characterized by a wide variety of other clinical and biochemical features, including hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism. Congenital central hypothyroidism is a rare disease (1:65,000 births); the detection of which may be delayed and missed by neonatal screening programs since most neonatal screening programs are based on TSH determination in dried blood spots only. Untreated hypothyroidism may cause abnormal liver biochemistry and non-alcoholic fatty liver disease. Our aim is to report a case of secondary hypothyroidism in an infant with an uncommon initial presentation.; Case Presentation (methods/results): A 3-month-old male baby was referred to our hospital due to elevated alpha-fetoprotein levels, hypercholesterolemia, and macrosomia. Initial investigations revealed enlarged fatty liver and central hypothyroidism. Pituitary insufficiency was biochemically excluded and a pituitary MRI showed normal findings. Upon genetic analysis, a hemizygous variant NM_001170961.1:c.2422dup, p.(His808Profs*14), in IGSF1 gene was detected, establishing the diagnosis of the IGSF1 deficiency syndrome. In our patient, no other clinical findings were identified. Treatment with levothyroxine led to the remission of liver disease.; Conclusion: Liver disease may be the initial presentation of secondary hypothyroidism in neonates and infants. Macrosomia in patients with isolated secondary central hypothyroidism is a strong indicator of IGSF1 syndrome.; (© 2023. The Author(s), under exclusive licence to Hellenic Endocrine Society.) |
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| Contributed Indexing: | Keywords: Central hypothyroidism; IGSF1; Liver disease; Macrosomia |
| Substance Nomenclature: | Q51BO43MG4 (Thyroxine); 9002-71-5 (Thyrotropin); 0 (IGSF1 protein, human); 0 (Immunoglobulins); 0 (Membrane Proteins) |
| Entry Date(s): | Date Created: 20230726 Date Completed: 20230825 Latest Revision: 20230825 |
| Update Code: | 20260130 |
| DOI: | 10.1007/s42000-023-00468-0 |
| PMID: | 37493943 |
| Database: | MEDLINE |
Case Reports; Journal Article; Review