Hipogonadismo hipogonadotrópico y diabetes mellitus insulinodependiente en una niña con cariotipo normal
Keywords:
hypogonadism; diabetes mellitus; amenorrhea; hypopituitarism; childAbstract
Introduction: It is rare to find simultaneous presence of type 1 diabetes mellitus in girls with hypogonadotropic hypogonadism. Differential diagnoses for diseases that present with both disorders include Turner syndrome, Woodhouse-Sakati syndrome, recurrent 17q12 deletion syndrome, disorders of sexual differentiation, autoimmune polyglandular syndrome type 2, and even monogenic obesity.
Objective: To discuss the case of a girl with primary amenorrhea secondary to hypogonadotropic hypogonadism, who presented with diabetic ketoacidosis as the onset of type 1 diabetes mellitus.
Case report: A 13-year-old female patient was brought to the hospital with a diagnosis of resolved diabetic ketoacidosis (onset of diabetes), amenorrhea, a grade 3 sacral pressure ulcer, and delayed motor and language development. Physical examination revealed no breast development or pubic hair (Tanner Stage 1), and the patient had a short cervix. Blood measurements of cortisol, LH, FSH, estradiol, TSH, free T4, prolactin, and PTH were also performed, leading to the conclusion that the patient had hypogonadotropic hypogonadism. A normal karyotype result (46, XX) was also obtained. Further testing was not possible due to the patient's failure to attend her appointment after discharge.
Conclusions: Given the association of primary amenorrhea due to hypogonadotropic hypogonadism and type 1 diabetes mellitus, the possibility of syndromic conditions should be considered, and genetic testing should be performed. In countries like Peru, access to genetic testing should be facilitated.
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References
1. Fu JF. Big challenges: obesity and type 2 diabetes in children and adolescents. World J Pediatr. 2019;15(4):313-4. DOI: https://doi.org/10.1007/s12519-019-00290-y
2. Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019;15(10):601-14. DOI: https://doi.org/10.1038/s41574-019-0224-4
3. Qiang W, Sun R, Zheng X, Du Y. Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report. BMC Cardiovasc Disord. 2020;20(1):459. DOI: https://doi.org/10.1186/s12872-020-01728-2
4. Alzahrani AM, Alsuwailem LO, Alghoraiby RM, Albadr FB, Alaseri YM. Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia. Cureus. 2022;14(8):e28540. DOI: https://doi.org/10.7759/cureus.28540
5. Alharbi MS. Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies. Saudi Med J. 2021;42(11):1237-42. DOI: https://doi.org/10.15537/smj.2021.42
6. Yang P, Liu X, Gao J, Qu S, Zhang M. Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report. Medicine (Baltimore). 2018;97(33):e11353. DOI: https://doi.org/10.1097/MD.0000000000011353
7. Zhang Y, Yuan Y. Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report. Medicine (Baltimore). 2023;102(52):e36727. DOI: https://doi.org/10.1097/MD.0000000000036727
8. Van Helmond J, Ajufo E, Graber E, Milano A. New-Onset Diabetes in a 17-year-old Girl with Primary Amenorrhea. Pediatr Rev. 2020;41(12):645-7. DOI: https://doi.org/10.1542/pir.2018-0111
9. Mitchel MW, Moreno-De-Luca D, Levy RV, Turner S, Martin CL. 17q12 Recurrent Deletion Syndrome. En: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al. (editors). GeneReviews® Seattle (WA): University of Washington; 1993-2024 [acceso 15/10/2020]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK401562/
10. Cottas LT, Borges MDF, Oliveira LPS, Resende ALM, Ataíde MS, Resende EAMR. Primary Amenorrhea Associated with Hyperprolactinemia in Polyglandular Autoimmune Syndrome Type II: A Case Report. Rev Bras Ginecol E Obstetrícia RBGO Gynecol Obstet. 2018;40(07):425-9. DOI: https://doi.org/10.1055/s-0038-1655749
11. Sheridan MB, Wohler E, Batista DAS, Applegate C, Hoover-Fong J. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome. Case Rep Genet. 2015;2015:1-6. DOI: https://doi.org/10.1155/2015/169482
12. Louro P, Durães J, Oliveira D, Paiva S, Ramos L, Macário MC. Woodhouse-Sakati Syndrome: First report of a Portuguese case. Am J Med Genet A. 2019; 179(11): 2237-40. DOI: https://doi.org/10.1002/ajmg.a.61303
13. Drole Torkar A, Avbelj Stefanija M, Bertok S, Trebušak Podkrajšek K, Debeljak M, Stirn Kranjc B, et al. Novel Insights into Monogenic Obesity Syndrome due to INPP5E Gene Variant: A Case Report of a Female Patient. Front Endocrinol (Lausanne). 2021;12:581134. DOI: https://doi.org/10.3389/fendo.2021.581134
14. Jenkin A, Renner D, Hahn F, Larsen J. A case of primary amenorrhea, diabetes and anosmia. Gynecol Endocrinol. 2000; 14(1):65-70. DOI: https://doi.org/10.3109/09513590009167663
15. Pinto J, Sudeep K, Venkatesha BM. A rare case of type 1 diabetes mellitus with pituitary hypoplasia. Diabetes Metab Syndr Clin Res Rev. 2014; 8(3):184-6. DOI: https://doi.org/10.1016/j.dsx.2014.04.007
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