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

Autori

  • Cecilia Lugarà Department of Human Pathology of Adulthood and Childhood “G. Barresi”, Unit of Pediatrics, University of Messina
  • Roberto Coco Department of Human Pathology of Adulthood and Childhood “G. Barresi”, Unit of Pediatrics, University of Messina
  • Alessandra Li Pomi Department of Human Pathology of Adulthood and Childhood “G. Barresi”, Unit of Pediatrics, University of Messina
  • Letteria Anna Morabito Department of Human Pathology of Adulthood and Childhood “G. Barresi”, Unit of Pediatrics, University of Messina
  • Malgorzata Wasniewska Department of Human Pathology of Adulthood and Childhood “G. Barresi”, Unit of Pediatrics, University of Messina
  • Tommaso Aversa Department of Human Pathology of Adulthood and Childhood “G. Barresi”, Unit of Pediatrics, University of Messina

DOI:

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

Parole chiave:

Galactosemia, puberty, hypergonadotropic hypogonadism, primary ovarian insufficiency

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.

Biografia autore

  • Roberto Coco, Department of Human Pathology of Adulthood and Childhood “G. Barresi”, Unit of Pediatrics, University of Messina
    Department of Human Pathology of Adulthood and Childhood “G. Barresi”, Unit of Pediatrics, University of Messina

Riferimenti bibliografici

1. Berry, GT. (2000). Classic Galactosemia and Clinical Variant Galactosemia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.

2. Coelho, AI., Rubio-Gozalbo, ME., Vicente, JB., Rivera, I. (2017) Sweet and sour: an update on classic galactosemia. J Inherit Metab Dis. 2017 May;40(3):325-342. doi: 10.1007/s10545-017-0029-3.

3. Lak, R., Yazdizadeh, B., Davari, M., et al. (2020). Newborn screening for galactosaemia. Cochrane Database Syst Rev. 6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3.

4. Welling, L., Bernstein, LE., Berry, GT. et al. (2017). Galactosemia Network (GalNet). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 40(2):171-176. doi: 10.1007/s10545-016-9990-5.

5. Fridovich-Keil, JL., Berry, GT. (2020). Pathophysiology of long-term complications in classic galactosemia: What we do and do not know. Mol Genet Metab. 137(1-2):33-39. doi: 10.1016/j.ymgme.2022.07.005.

6. Rubio-Gozalbo, ME., Panis, B., Zimmermann, LJ., Spaapen, LJ., Menheere, PP. (2006). The endocrine system in treated patients with classical galactosemia. Mol Genet Metab. 89(4):316-22. doi: 10.1016/j.ymgme.2006.07.005.

7. Kaufman, F., Kogut, MD., Donnell, GN., Koch, H., Goebelsmann, U. (1979). Ovarian failure in galactosaemia. Lancet. 2(8145):737-8. doi: 10.1016/s0140-6736(79)90658-5.

8. Derks, B., Rivera-Cruz, G., Hagen-Lillevik, S., et al. (2023). The hypergonadotropic hypogonadism conundrum of classic galactosemia. Hum Reprod Update. 29(2):246-258. doi: 10.1093/humupd/dmac041.

9. Nordenström, A., Ahmed, SF., van den Akker, E., et al. (2022). Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline. Eur J Endocrinol. 186(6):G9-G49. doi: 10.1530/EJE-22-0073.

Federici, S., Goggi, G., Quinton, R., et al. (2022). New and Consolidated Therapeutic Options for Pubertal Induction in Hypogonadism: In-depth Review of the Literature. Endocr Rev.;43(5):824-851. doi: 10.1210/endrev/bnab043. PMID: 34864951.

Dowloads

Pubblicato

2025-02-12

Fascicolo

V. 112 N. 2 (2024)

Sezione

CLINICAL CASE SEMINAR

Licenza

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms:
  • Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
  • Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
  • Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).