{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:07:02Z","timestamp":1780621622921,"version":"3.54.1"},"reference-count":33,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0626_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We report two cases of 46,XY siblings with pontocerebellar hypoplasia type 7 (PCH7) and conduct a systematic literature review for genetically confirmed PCH7 cases, focusing on phenotypic characteristics, particularly gonadal parameters, and associated genotypic\u00a0data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0626_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>Two 46,XY siblings diagnosed with PCH7 were reviewed. Both exhibited hypoplastic male external genitalia, absent uterus, and cryptorchid testes, confirmed through histological assessments showing dysgenesis. A systematic literature search revealed an additional 26 cases of 46,XY PCH7, with neurological involvement noted in all cases except one. The external genitalia were described as abnormal (17\/23); however, few of these were hypoplastic male type on pictorial review. Nonlocalized testes (5\/5) and absent uterus (4\/7) on ultrasonography, elevated FSH (7\/7), and low testosterone (3\/3) were observed. Besides a novel variant (p.Ile133Thr) in Indian siblings, a total of 25 variants in TOE1 were identified with no specific genotype\u2013phenotype correlation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0626_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Testicular development was defective in all PCH7 patients but was variable, with the predominant phenotypic manifestation being testicular regression syndrome\/partial gonadal dysgenesis with M\u00fcllerian duct regression (TRS\/PGD-MDR).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0626","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T09:06:02Z","timestamp":1773824762000},"page":"490-498","source":"Crossref","is-referenced-by-count":0,"title":["46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9328-3024","authenticated-orcid":false,"given":"Shaila Sanjay","family":"Pachapure","sequence":"first","affiliation":[{"name":"Department of Pediatrics (Pediatric and Adolescent Endocrinology) , 29178 Jawaharlal Nehru Medical College (KAHER\u2013KLE Academy of Higher Education and Research) , Belagavi , Karnataka , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0803-8105","authenticated-orcid":false,"given":"Akshay","family":"Kalavant B.","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery , Shri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital , Dharwad , Karnataka , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7408-9357","authenticated-orcid":false,"given":"Santosh B.","family":"Kurbet","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery , Jawaharlal Nehru Medical College (KAHER\u2013KLE Academy of Higher Education and Research) , Belagavi , Karnataka , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0243-0448","authenticated-orcid":false,"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Vydehi Institute of Medical Sciences and Research Centre , Bangalore , Karnataka , India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"key":"2026060500564541721_j_jpem-2025-0626_ref_001","doi-asserted-by":"crossref","unstructured":"Baidya, A, Basu, AK, Bhattacharjee, R, Biswas, D, Biswas, K, Chakraborty, PP, et al.. 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