Galactosemia and timing of puberty: a case report of early diagnosed hypergonadotropic hypogonadism

Cecilia Lugarà, Roberto Coco, Alessandra Li Pomi, Letteria Anna Morabito, Malgorzata Wasniewska, Tommaso Aversa

Abstract


Galactosemia is an inborn error of galactose metabolism, characterized by the failure to metabolize galactose correctly due to enzyme deficiencies. Type I or classic galactosemia is the most severe form of galactosemia. The diagnosis is made by metabolic screening. Symptoms manifest from the first days of life and include feeding difficulties, vomiting, hypoglycemia, jaundice, and sepsis with E. coli. Long-term treatment consists of a strict galactose-free diet. However, patients may still develop endocrine complications, such as hypergonadotropic hypogonadism in females.
We report the case of a 9.5-year-old girl with classic galactosemia who was diagnosed with hypergonadotropic hypogonadism at an early age. The clinical follow-up until the start of puberty induction therapy is described. We highlight the importance of a timely diagnosis of hypogonadism to avoid a delay in the timing of puberty induction, which could lead to the potential complications.


Keywords


Galactosemia, puberty, hypergonadotropic hypogonadism, primary ovarian insufficiency

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References


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DOI: https://doi.org/10.13129/1828-6550/APMB.112.2.2024.CCS2

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Copyright (c) 2025 Cecilia Lugarà, Roberto Coco, Alessandra Li Pomi, Letteria Anna Morabito, Malgorzata Wasniewska, Tommaso Aversa

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