{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:23:23Z","timestamp":1792034603783,"version":"4.4.0"},"reference-count":37,"publisher":"Bioscientifica","issue":"11","license":[{"start":{"date-parts":[[2024,8,20]],"date-time":"2024-08-20T00:00:00Z","timestamp":1724112000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,8,20]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The data on Leydig cell hypoplasia (LCH) resulting from biallelic Luteinizing hormone\/chorionic gonadotropin receptor (\n                      <jats:italic>LHCGR<\/jats:italic>\n                      ) inactivating variants is limited to case series.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We aim to describe our patients and perform systematic review of the patients with\n                      <jats:italic>LHCGR<\/jats:italic>\n                      inactivating variants in the literature. Detailed phenotype and genotype data of three patients from our centre and 85 (46,XY: 67; 46,XX: 18) patients from 59 families with LHCGR-inactivating variants from literature were described.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three 46,XY patients (age 6\u201318 years) from our center, with two reared as females, had two novel variants in\n                      <jats:italic>LHCGR.<\/jats:italic>\n                      Systematic review (including our patients) revealed 72 variants in 88 patients. 46,XY patients (\n                      <jats:italic>n<\/jats:italic>\n                      = 70, 56 raised as females) presented with pubertal delay (\n                      <jats:italic>n<\/jats:italic>\n                      = 41) or atypical genitalia (\n                      <jats:italic>n<\/jats:italic>\n                      = 17). Sinnecker score \u22653 (suggesting antenatal human chorionic gonadotropin (hCG) inaction) was seen in 80% (56\/70), and hCG-stimulated testosterone was low (&lt;1.1 ng\/mL) in 77.4% (24\/31), whereas puberty\/postpubertal age, high luteinizing hormone (LH) (97.6%, 41\/42) and low (&lt;1.0 ng\/mL) basal testosterone (94.9%, 37\/39) was observed in most. Follicle stimulating hormone was elevated in 21\/51 of these patients. Variants with &lt;10% receptor function were exclusively seen in cohorts with Sinnecker 4\/5 (10\/15 vs 0\/5,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.033). 46,XX patients (\n                      <jats:italic>n<\/jats:italic>\n                      = 18) presented with oligo\/amenorrhea and\/or anovulatory infertility and had polycystic ovaries (7\/9) with median LH of 10 IU\/L (1.2\u201338).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      In summary, this study comprehensively characterizes\n                      <jats:italic>LHCGR<\/jats:italic>\n                      variants, revealing genotype-phenotype correlations and informing clinical management of LCH. In 46,XY LCH patients, pubertal LH inaction is uniform with variable severity of antenatal hCG inaction. Few mutant\n                      <jats:italic>LHCGR<\/jats:italic>\n                      have differential actions for LH and hCG.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/ec-24-0246","type":"journal-article","created":{"date-parts":[[2024,8,20]],"date-time":"2024-08-20T10:21:33Z","timestamp":1724149293000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":3,"title":["LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients"],"prefix":"10.1530","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7612-506X","authenticated-orcid":true,"given":"Rohit","family":"Barnabas","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swati","family":"Jadhav","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9623-4471","authenticated-orcid":true,"given":"Anurag Ranjan","family":"Lila","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirisha","family":"Kusuma Boddu","sequence":"additional","affiliation":[{"name":"Consultant Pediatric Endocrinology & Diabetes, Rainbow Children\u2019s Hospital, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba Samad","family":"Memon","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sneha","family":"Arya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samiksha Chandrashekhar","family":"Hegishte","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjiri","family":"Karlekar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virendra A","family":"Patil","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nalini S","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tushar","family":"Bandgar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Endocrine Reviews","first-page":"141","article-title":"The lutropin\/choriogonadotropin receptor, a 2002 perspective","volume":"23","author":"Ascoli","year":"2002","unstructured":"Ascoli MFanelli F & Segaloff DL. 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