De morseir syndrome presenting as ambiguous genitalia
Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral crypto...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Indian Journal of Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | http://www.ijem.in/article.asp?issn=2230-8210;year=2012;volume=16;issue=8;spage=509;epage=511;aulast=Thukral |
| _version_ | 1819134089942269952 |
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| author | Anubhav Thukral S Chitra Partho P Chakraborty Ajitesh Roy Soumik Goswami Rana Bhattacharjee Deep Dutta Indira Maisnam Sujoy Ghosh Satinath Mukherjee Subhankar Chowdhury |
| author_facet | Anubhav Thukral S Chitra Partho P Chakraborty Ajitesh Roy Soumik Goswami Rana Bhattacharjee Deep Dutta Indira Maisnam Sujoy Ghosh Satinath Mukherjee Subhankar Chowdhury |
| author_sort | Anubhav Thukral |
| collection | DOAJ |
| description | Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. Results: The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. Conclusion: As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity. |
| first_indexed | 2024-12-22T09:57:39Z |
| format | Article |
| id | doaj.art-1c7bba1b60d4455e83ded9e5a62fe9b1 |
| institution | Directory Open Access Journal |
| issn | 2230-8210 2230-9500 |
| language | English |
| last_indexed | 2024-12-22T09:57:39Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Endocrinology and Metabolism |
| spelling | doaj.art-1c7bba1b60d4455e83ded9e5a62fe9b12022-12-21T18:30:14ZengWolters Kluwer Medknow PublicationsIndian Journal of Endocrinology and Metabolism2230-82102230-95002012-01-0116850951110.4103/2230-8210.104151De morseir syndrome presenting as ambiguous genitaliaAnubhav ThukralS ChitraPartho P ChakrabortyAjitesh RoySoumik GoswamiRana BhattacharjeeDeep DuttaIndira MaisnamSujoy GhoshSatinath MukherjeeSubhankar ChowdhuryBackground: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. Results: The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. Conclusion: As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.http://www.ijem.in/article.asp?issn=2230-8210;year=2012;volume=16;issue=8;spage=509;epage=511;aulast=ThukralCryptorchidismgenital ambiguityhypospadiashypogonadotropic hypogonadism |
| spellingShingle | Anubhav Thukral S Chitra Partho P Chakraborty Ajitesh Roy Soumik Goswami Rana Bhattacharjee Deep Dutta Indira Maisnam Sujoy Ghosh Satinath Mukherjee Subhankar Chowdhury De morseir syndrome presenting as ambiguous genitalia Indian Journal of Endocrinology and Metabolism Cryptorchidism genital ambiguity hypospadias hypogonadotropic hypogonadism |
| title | De morseir syndrome presenting as ambiguous genitalia |
| title_full | De morseir syndrome presenting as ambiguous genitalia |
| title_fullStr | De morseir syndrome presenting as ambiguous genitalia |
| title_full_unstemmed | De morseir syndrome presenting as ambiguous genitalia |
| title_short | De morseir syndrome presenting as ambiguous genitalia |
| title_sort | de morseir syndrome presenting as ambiguous genitalia |
| topic | Cryptorchidism genital ambiguity hypospadias hypogonadotropic hypogonadism |
| url | http://www.ijem.in/article.asp?issn=2230-8210;year=2012;volume=16;issue=8;spage=509;epage=511;aulast=Thukral |
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