Indian Journal of Endocrinology and Metabolism

BRIEF COMMUNICATION
Year
: 2012  |  Volume : 16  |  Issue : 8  |  Page : 509--511

De morseir syndrome presenting as ambiguous genitalia


Anubhav Thukral, S Chitra, Partho P Chakraborty, Ajitesh Roy, Soumik Goswami, Rana Bhattacharjee, Deep Dutta, Indira Maisnam, Sujoy Ghosh, Satinath Mukherjee, Subhankar Chowdhury 
 Department of Endocrinology, IPGME and R, 242 AJC Bose Road, Kolkata,West Bengal, India

Correspondence Address:
Anubhav Thukral
124-A/418, Block no. 11, Govind Nagar, Kanpur-208006, Uttar Pradesh
India

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.


How to cite this article:
Thukral A, Chitra S, Chakraborty PP, Roy A, Goswami S, Bhattacharjee R, Dutta D, Maisnam I, Ghosh S, Mukherjee S, Chowdhury S. De morseir syndrome presenting as ambiguous genitalia.Indian J Endocr Metab 2012;16:509-511


How to cite this URL:
Thukral A, Chitra S, Chakraborty PP, Roy A, Goswami S, Bhattacharjee R, Dutta D, Maisnam I, Ghosh S, Mukherjee S, Chowdhury S. De morseir syndrome presenting as ambiguous genitalia. Indian J Endocr Metab [serial online] 2012 [cited 2021 Jan 16 ];16:509-511
Available from: https://www.ijem.in/article.asp?issn=2230-8210;year=2012;volume=16;issue=8;spage=509;epage=511;aulast=Thukral;type=0