Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review
Round 1
Reviewer 1 Report
The article presented for review is a presentation of an interesting rare case - the combination of the Turner syndrome with somatotropic (with normal IGF-1 and IGFBP-3) and adrenocorticotropic insufficency of pituitary gland. Subclinical hypothyreosis (elevated TSH level) suggests no thyrotropic line disorder. The diagnosed microadenoma, most likely incidentaloma, does not seem to be hormonally active. The case was presented in a typical way. The presentation does not raise any objections. It would certainly enrich the work to present, for example, the results of blood serum biochemistry in a tabular form. It is surprising that the picture of the external clinical features of Turner syndrome is relatively poor.
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Reviewer 2 Report
Review coexistence of GHD and pituitary microadenoma in a child with mosaic Turner
This is a well written case report on an interesting topic. I have few remaining questions:
- The authors state that this is the first case of coexistence of GH deficiency and pituitary microadenoma. Reviewing the literature, there are several other case reports such as PMID 28099131: Review of the literature identified eight case reports of women with TS who developed pituitary adenomas. https://pubmed.ncbi.nlm.nih.gov/28099131/. The patients of this review are not included in Table 1? It would be interesting to make a good review of the literature and compare the clinical and genetic characteristics of these patients.
- Almost all girls with TS have growth failure and reduced adult height. SHOX explains part of the growth deficit associated with Turner syndrome. The authors write that TS is better thought as a skeletal dysplasia. Can you add more background information on the pathophysiological mechanism of short stature in TS in your article? In addition can you add the growth curve of your patient, especially the TS growth curve (Bernasconi et al. 1994)? When would you advice to perform a growth hormone provocation test?
- Line 132-134: this is a very strange sentence. Give more background information on (micro)adenoma and endocrinological consequences. There is no reference in your article to (micro)adenoma.
Author Response
We uploaded author's reply to the review report as a Word file.
Author Response File: Author Response.docx
