{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:23Z","timestamp":1784557043305,"version":"3.55.0"},"reference-count":13,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,2,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and upper two-thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries, whereas gonadal dysgenesis is a primary ovarian defect in otherwise normal 46,XX females. An association between these two conditions is extremely rare. We report a 21-year-old female presented with primary amenorrhea and undeveloped secondary sexual characteristics. The karyotype was 46,XX and the hormonal profile revealed hypothyroidism and hypogonadotropic hypogonadism. Pelvic MRI showed class I Mullerian duct anomaly with ovarian dysgenesis. Ultrasound showed bilateral thyroid hypoplasia and brain MRI suggested anterior pituitary hypoplasia. Levothyroxine and hormone replacement therapy were started.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>The simultaneous presentation of 46,XX gonadal dysgenesis, Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser syndrome, hypothyroidism, and pituitary hypoplasia is a Possibility.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Extensive evaluation should be made when a patient presents with one or more of these features.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>The diagnosis imposes a significant psychological burden on patients and adequate counseling should be provided.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Hormone replacement therapy remains the only therapeutic option for the development of secondary sexual characteristics and the prevention of osteoporosis.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-21-0103","type":"journal-article","created":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T07:41:23Z","timestamp":1644478883000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":3,"title":["A rare case of 46,XX gonadal dysgenesis, Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser syndrome, pituitary and thyroid hypoplasia"],"prefix":"10.1530","volume":"2022","author":[{"given":"Rediet","family":"Ambachew","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amare","family":"Gulilat","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tewodros","family":"Aberra","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zewdu","family":"Terefework","sequence":"additional","affiliation":[{"name":"MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wubalem","family":"Bedilu","sequence":"additional","affiliation":[{"name":"Department of Radiology, St. Paul\u2019s Hospital Millenium Medical College, Addis Ababa, Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Getahun","family":"Tarekegn","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Reja","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Advances in Genomics and Genetics","first-page":"165","article-title":"Disorders of sex development: advances in genetic diagnosis and challenges in management","volume":"5","author":"Kyriakou","year":"2015","unstructured":"Kyriakou ALucas-Herald AMcGowan RTobias EAhmed F. 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