TY - JOUR
T1 - Hipotiroidismo y déficit de la hormona de crecimiento como complicación del Síndrome de Turner
T2 - Reporte de Caso
AU - Aucay, Homero Abel Chacho
AU - Naula, Manuel Patricio Naula
AU - Lata, Gabriela Estefanía Peralta
AU - Córdova, María Emilia Tenorio
AU - Guaman, María Rosa Chimborazo
AU - Salazar, Angela Del Rosario Guncay
AU - Nugra, Tania Mariela Guzmán
N1 - Publisher Copyright:
© 2023; Los autores.
PY - 2023
Y1 - 2023
N2 - Turner syndrome is a rare disease with a global prevalence of 64 per 100 000 live births, due to the total or partial loss of a sex chromosome of the 45X pair, mosaic karyotype. It is associated with multiple complications such as hypothyroidism, growth hormone deficiency and other endocrine disorders. Case presentation: female patient, 27 years old, who since childhood presented severe growth problems, in addition to psychomotor problems; with the passage of time there was no improvement in her height for age, so a genetic disorder was suspected. At 9 years of age, a genetic karyotype test was performed and the diagnosis of Turner Syndrome was confirmed. To this diagnosis was added: hypothyroidism, hypogonadism and osteopenia of the hip and spine. Therefore, her treatment was mainly based on hormone replacement therapy with estrogen and progesterone derivatives, such as estradiol and medroxyprogesterone acetate until she was 16 years old; in addition to growth hormone. Over the years her clinical picture improved significantly, especially in her growth, reaching her final height of 1,49 cm. Conclusion: currently the patient remains stable with a lucid neurological condition, continues with her hormone replacement therapy for hypothyroidism and osteopenia.
AB - Turner syndrome is a rare disease with a global prevalence of 64 per 100 000 live births, due to the total or partial loss of a sex chromosome of the 45X pair, mosaic karyotype. It is associated with multiple complications such as hypothyroidism, growth hormone deficiency and other endocrine disorders. Case presentation: female patient, 27 years old, who since childhood presented severe growth problems, in addition to psychomotor problems; with the passage of time there was no improvement in her height for age, so a genetic disorder was suspected. At 9 years of age, a genetic karyotype test was performed and the diagnosis of Turner Syndrome was confirmed. To this diagnosis was added: hypothyroidism, hypogonadism and osteopenia of the hip and spine. Therefore, her treatment was mainly based on hormone replacement therapy with estrogen and progesterone derivatives, such as estradiol and medroxyprogesterone acetate until she was 16 years old; in addition to growth hormone. Over the years her clinical picture improved significantly, especially in her growth, reaching her final height of 1,49 cm. Conclusion: currently the patient remains stable with a lucid neurological condition, continues with her hormone replacement therapy for hypothyroidism and osteopenia.
KW - Human Genetics
KW - Hypogonadism
KW - Hypothyroidism
KW - Turner Syndrome
UR - https://www.scopus.com/pages/publications/85174518949
U2 - 10.56294/saludcyt2023438
DO - 10.56294/saludcyt2023438
M3 - Artículo
AN - SCOPUS:85174518949
SN - 2796-9711
VL - 3
JO - Salud, Ciencia y Tecnologia
JF - Salud, Ciencia y Tecnologia
M1 - 438
ER -