title: De morseir syndrome presenting as ambiguous genitalia.
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Endocrinology, IPGME and R, 242 AJC Bose Road, Kolkata, West Bengal, India.
authors.forename: Anubhav
authors.initials: A
authors.lastname: Thukral
authors.forename: S
authors.initials: S
authors.lastname: Chitra
authors.forename: Partho P
authors.initials: PP
authors.lastname: Chakraborty
authors.forename: Ajitesh
authors.initials: A
authors.lastname: Roy
authors.forename: Soumik
authors.initials: S
authors.lastname: Goswami
authors.forename: Rana
authors.initials: R
authors.lastname: Bhattacharjee
authors.forename: Deep
authors.initials: D
authors.lastname: Dutta
authors.forename: Indira
authors.initials: I
authors.lastname: Maisnam
authors.forename: Sujoy
authors.initials: S
authors.lastname: Ghosh
authors.forename: Satinath
authors.initials: S
authors.lastname: Mukherjee
authors.forename: Subhankar
authors.initials: S
authors.lastname: Chowdhury
keywords: Cryptorchidism; genital ambiguity; hypogonadotropic hypogonadism; hypospadias
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