title: Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage.
abstract: BACKGROUND
  Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period to explore the gonadotropic axis for assessing the presence of congenital hypogonadotropic hypogonadism (CHH).
  
  
  OBJECTIVE
  To explore the functioning of the hypothalamic-pituitary-gonadal axis in the postnatal gonadotropic surge for an early diagnosis of CHH in newborns or infants suspected of having CPHD.
  
  
  METHODS
  A cohort of 27 boys under 6 months and 19 girls under 24 months of age with suspected hypopituitarism was studied. Serum concentrations of LH, FSH, testosterone, inhibin B, anti-Müllerian hormone (AMH) and estradiol were measured, and male external genitalia were characterized as normal or abnormal (micropenis, microorchidism and/or cryptorchidism).
  
  
  RESULTS
  CPHD was confirmed in 36 out of 46 patients. Low LH and testosterone levels were found in 66% of the hypopituitary males, in significant association with the presence of abnormal external genitalia. This abnormality had a positive predictive value of 93% for CHH. No significant association was observed between serum FSH, AMH and inhibin B and the patient's external genitalia.
  
  
  CONCLUSIONS
  In newborn or infant boys with CPHD, LH and testosterone concentrations measured throughout the postnatal gonadotropic surge, together with a detailed evaluation of the external genital phenotype, facilitate the diagnosis of CHH at an early stage.
authors.affiliation: Centro de Investigaciones Endocrinolx00F3;gicas x2018;Dr. Cx00E9;sar Bergadx00E1;' (CEDIE), Divisix00F3;n de Endocrinologx00ED;a, Hospital de Nix00F1;os Ricardo Gutix00E9;rrez, Buenos Aires, Argentina.
authors.forename: Débora
authors.initials: D
authors.lastname: Braslavsky
authors.forename: Romina Paula
authors.initials: RP
authors.lastname: Grinspon
authors.forename: María Gabriela
authors.initials: MG
authors.lastname: Ballerini
authors.forename: Patricia
authors.initials: P
authors.lastname: Bedecarrás
authors.forename: Nazareth
authors.initials: N
authors.lastname: Loreti
authors.forename: Gabriela
authors.initials: G
authors.lastname: Bastida
authors.forename: María Gabriela
authors.initials: MG
authors.lastname: Ropelato
authors.forename: Ana
authors.initials: A
authors.lastname: Keselman
authors.forename: Stella
authors.initials: S
authors.lastname: Campo
authors.forename: Rodolfo Alberto
authors.initials: RA
authors.lastname: Rey
authors.forename: Ignacio
authors.initials: I
authors.lastname: Bergadá
mesh_terms: D054304:Anti-Mullerian Hormone / Q000097:blood; D001921:Brain / Q000473:pathology; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005837:Genitalia, Male / Q000002:abnormalities; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood / Q000172:deficiency; D007006:Hypogonadism / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D007018:Hypopituitarism / Q000150:complications* / Q000151:congenital*; D007223:Infant; D007265:Inhibins / Q000097:blood; D007986:Luteinizing Hormone / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D012727:Sex Characteristics; D013739:Testosterone / Q000097:blood
chemical_list: D012739:Gonadal Steroid Hormones; C422364:inhibin B; D013739:Testosterone; D007265:Inhibins; D054304:Anti-Mullerian Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D006854:Hydrocortisone