Abstract
Turner syndrome (TS) is a genetic disorder with phenotypic heterogeneity caused by the monosomy or structural abnormalities of the X chromosome, and it has a prevalence of about 1/2500 females live birth. The variable clinical features of TS include short stature, gonadal failure, and skeletal dysplasia. The association with growth hormone (GH) deficiency or other hypopituitarism in TS is extremely rare, with only a few case reports published in the literature. Here, we report the first case of a patient with mosaic TS with complete GH deficiency and pituitary microadenoma, and we include the literature review. During the work-up of the patient for severe short stature, three GH provocation tests revealed peak GH levels of less than 5 ng/mL, which was compatible with complete GH deficiency. Sella magnetic resonance imaging showed an 8 mm non-enhancing pituitary adenoma with mild superior displacement of the optic chiasm. Karyotyping revealed the presence of ring chromosome X and monosomy X (46,X,r(X)/45,X/46,X,psu dic r(X;X)), which indicated a mosaic TS. It is important to consider not only chromosome analyses in females with short stature, but also the possibility of the coexistence of complete GH deficiency accompanying pituitary lesions in TS. In conclusion, the present study reports the first case of GH deficiency and pituitary adenoma in a patient with rare mosaic TS, which extends the genotype–phenotype spectrum for TS.
Highlights
Turner syndrome (TS) is a genetic disorder occurring in females caused by the partial or complete absence of one of the X chromosomes
One of the common presentations that pediatricians encounter in clinical practice, is a clinical hallmark of TS
5% of children referred for an evaluation of short stature have an identifiable pathologic cause, such as growth hormone (GH) deficiency, chronic disease, or a genetic condition (e.g., TS) [9,10]
Summary
Turner syndrome (TS) is a genetic disorder occurring in females caused by the partial or complete absence of one of the X chromosomes. Diagnostics 2020, 10, 783 mosaicism, or X chromosome anomalies are associated with variable presentations along the TS phenotype spectrum; individuals with 45,X monosomy typically have the most severe phenotype [5]. Mosaic TS are subcategorized according to whether the second cell line contains a whole or part of a sex chromosome. In a study by Jacobs et al [6], 16% of the 84 cases with TS had a standard karyotype of 45, X and a second cell line containing a ring chromosome X. Patients with TS tend to have short stature and high body mass indices [7], but most often do not have growth hormone (GH) deficiency [4]. We report the first case of the coexistence of GH deficiency and pituitary microadenoma in a TS patient
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