{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:50Z","timestamp":1784557010398,"version":"3.55.0"},"reference-count":11,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,4,19]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic\u2013pituitary\u2013gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. There are a handful of reports of pubertal delay, infertility and cryptorchidism in Lowe syndrome. Biochemistry aged 72\u2009h: testosterone 6.4\u2009nmol\/L, LH &lt;0.5\u2009IU\/L and FSH &lt;0.5\u2009IU\/L. Gonadotropin-releasing hormone stimulation test identified significantly raised baseline LH\u2009=\u200945.4\u2009IU\/L (contrasts with earlier undetectable LH), with a 20% increase on stimulation, while baseline FSH\u2009=\u20094.3\u2009IU\/L with no increase on stimulation. Day 14 HCG stimulation test produced an acceptable 50% increase in testosterone. The constellation of further abnormalities suggested Lowe syndrome: hypotonia, bilateral cataracts (surgical extraction and intraocular lens implantation) and renal tubular acidosis (microscopic haematuria, hypercalciuria, proteinuria, generalised aminoaciduria, hypophosphataemia and metabolic acidosis). DNA sequencing identified\n                    <jats:italic>de novo<\/jats:italic>\n                    hemizygous frameshift mutation OCRL c.2409_2410delCT in exon 22. Interpretation of initial and repeat GnRH and HCG testing indicates the likelihood of testicular failure. Partial testicular descent occurred but left orchidopexy was required. Improving long-term gonadal function in Lowe syndrome assumes increased importance for current cohorts as advances in renal replacement therapy have greatly improved life expectancy. Noting HPG axis abnormalities in Lowe syndrome in infancy can identify cases requiring increased surveillance of pubertal progress for earlier detection and management.\n                  <\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Clinical endocrine problems in Lowe syndrome has been reported, but has focused on abnormalities in adolescence and young adulthood: pubertal delay and infertility.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>We present an infant with isolated LH elevation at baseline and on GnRH stimulation testing who also had bilateral impalpable testes.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Early testing of the HPG axis in patients with Lowe syndrome may help predict gonadal abnormalities from a younger age, which will enhance the overall case management into adolescence.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-17-0042","type":"journal-article","created":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T03:28:46Z","timestamp":1492572526000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":2,"title":["Gonadotrophin abnormalities in an infant with Lowe syndrome"],"prefix":"10.1530","volume":"2017","author":[{"given":"Bronwen E","family":"Warner","sequence":"first","affiliation":[{"name":"1Departments of Paediatric Endocrinology and Diabetes"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol D","family":"Inward","sequence":"additional","affiliation":[{"name":"2Departments of Paediatric Nephrology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine P","family":"Burren","sequence":"additional","affiliation":[{"name":"1Departments of Paediatric Endocrinology and Diabetes"},{"name":"3NIHR Biomedical Research Unit in Nutrition, Diet & Lifestyle, University Hospitals Bristol NHS Foundation Trust, Education Centre, Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"key20170419121931974_bib1","doi-asserted-by":"publisher","unstructured":"LoiM 2006 Lowe syndrome. Orphanet Journal of Rare Diseases 1 16. (doi:10.1186\/1750-1172-1-16)","DOI":"10.1186\/1750-1172-1-16"},{"key":"key20170419121931974_bib2","doi-asserted-by":"publisher","unstructured":"LoweM 2005 Structure and function of the Lowe syndrome protein OCRL1. Traffic 6 711\u2013719. (doi:10.1111\/j.1600-0854.2005.00311.x)","DOI":"10.1111\/j.1600-0854.2005.00311.x"},{"key":"key20170419121931974_bib3","doi-asserted-by":"publisher","unstructured":"MonnierNSatreVLerougeEBerthoinFLunardiJ 2000 OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counselling. Human Mutation 16 157\u2013165. (doi:10.1002\/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9)","DOI":"10.1002\/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9"},{"key":"key20170419121931974_bib4","doi-asserted-by":"publisher","unstructured":"LavinCWMcKeownCA 1993 The oculocerebrorenal syndrome of Lowe. International Ophthalmology Clinics 33 179\u2013191. (doi:10.1097\/00004397-199303320-00017)","DOI":"10.1097\/00004397-199303320-00017"},{"key":"key20170419121931974_bib5","unstructured":"KimHKKimJHKimYMKimGHLeeBHChoiJHYooHW 2014 Lowe syndrome: a single center\u2019s experience in Korea. Korean Journal of Pediatrics 57 140\u2013148. (doi:10.3345\/kjp.2014.57.3.140)"},{"key":"key20170419121931974_bib6","doi-asserted-by":"crossref","unstructured":"SinghAR 2002 Lowe syndrome (oculocerebrorenal syndrome of Lowe): a case report of two brothers from India. International Journal of Human Genetics 2 243\u2013249.","DOI":"10.1080\/09723757.2002.11885812"},{"key":"key20170419121931974_bib7","doi-asserted-by":"crossref","unstructured":"BrookCClaytonPBrownR 2009 Brook\u2019s Clinical Pediatric Endocrinology, 6th ed. Oxford, UK: Wiley-Blackwell.","DOI":"10.1002\/9781444316728"},{"key":"key20170419121931974_bib8","unstructured":"SuomiAMMainKMKalevaMSchmidtIMChellakootyMVirtanenHEBoisenKADamgaardINKaiCMSkakkebaekNE 2005 Hormonal changes in 3-month old cryptorchid boys. Journal of Clinical Endocrinology and Metabolism 91 953\u2013958. (doi:10.1210\/jc.2004-2318)"},{"key":"key20170419121931974_bib9","unstructured":"AnderssonAMJ\u00f8rgensenNFrydelund-LarsenLRajpert-De MeytsESkakkeb\u00e6kNE 2004 Impaired Leydig cell function in infertile men: a study of 357 idiopathic infertile men and 318 proven fertile controls. Journal of Clinical Endocrinology and Metabolism 89 3161\u20133167. (doi:10.1210\/jc.2003-031786)"},{"key":"key20170419121931974_bib10","unstructured":"MurphyLO\u2019ShaughnessyPJ 1991 Effect of cryptorchidism on testicular and Leydig cell androgen production in the mouse. International Journal of Andrology 14 66\u201374. (doi:10.1111\/j.1365-2605.1991.tb01064.x)"},{"key":"key20170419121931974_bib11","doi-asserted-by":"publisher","unstructured":"AhmedSFChengAHughesIA 1999 Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome. Archives of Disease in Childhood 80 324\u2013329. (doi:10.1136\/adc.80.4.324)","DOI":"10.1136\/adc.80.4.324"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2017\/1\/EDM17-0042.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2017\/1\/EDM17-0042.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:35Z","timestamp":1784555195000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3439"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,19]]},"references-count":11,"URL":"https:\/\/doi.org\/10.1530\/edm-17-0042","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,19]]}}}