De morseir syndrome presenting as ambiguous genitalia

Area of Science:

• Pediatric Endocrinology
• Genetics
• Developmental Biology

Background:

• A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones.
• Congenital hypogonadotropic hypogonadism is a rare cause of genital ambiguity.

Purpose of the Study:

• To highlight the rare presentation of congenital hypogonadotropic hypogonadism as genital ambiguity.
• To investigate the underlying causes of combined hormonal deficiencies in a pediatric patient.

Main Methods:

• Clinical examination revealed bilateral cryptorchidism, proximal penile hypospadias, and microphallus.
• Auxological assessment indicated proportionate dwarfism with delayed bone age.
• Hormonal assays showed growth hormone insufficiency and low IGF1; MRI revealed hypoplastic corpus callosum and pituitary abnormalities.
• Karyotype was 46XY.

Main Results:

• Surgical management included laparoscopic removal of an intra-abdominal testis and orchidoplexy.
• Testicular biopsy confirmed no malignancy.
• Growth hormone replacement therapy was initiated.
• The patient is awaiting hypospadias repair.

Conclusions:

• The patient's presentation suggests septo-optic dysplasia or de Mopseir syndrome.
• A provisional diagnosis of combined growth hormone and gonadotropin deficiency was made.
• This case underscores the importance of considering rare endocrine disorders in pediatric genital ambiguity.