Table 1 Summary of the clinical phenotypes and MRI findings of CPHD/SOD patients with KAL1 mutations

From: A novel KAL1 mutation is associated with combined pituitary hormone deficiency

Case

Sex

Clinical findings

Affected pituitary hormones

MRI findings

KAL1 mutation

Ref

I-1 a

Male

Micropenis, no ocular defect, no midline defects

GH, TSH, LH/FSH, ACTH

NA

p.H459Y

7

II-1

Female

SOD

GH, TSH

EPP, ONH

p.K185N

14

III-1

Female

SOD

GH

ONH

p.P291T

14

III-2

Female

SOD

GH

ONH

  

Our case

Male

Right microphthalmia, right renal aplasia, bilateral hearing impairment, severe developmental delay, micropenis, cryptorchidism

GH, TSH, LH/FSH, ACTH

APH, CH, NPP

p.H568Q

 
  1. Abbreviations: ACTH, adrenocorticotropin; APH, anterior pituitary hypoplasia; CH, cerebellar hypoplasia; CPHD, combined pituitary hormone deficiency; EPP, ectopic posterior pituitary; FSH, follicle-stimulating hormone; GH, growth hormone; LH, luteinizing hormone; NPP, normal posterior pituitary; NA, not available; ONH, optic nerve hypoplasia; SOD, septo-optic dysplasia; TSH, thyroid-stimulating hormone.
  2. aThis patient also carried a heterozygous p.R85H mutation in PROKR2, which had been reported to be causative for Kallmann syndrome.
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