A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation

Endocrine Journal

Volumn 49, Issue 1, 2002, Pages 15-20

  Miyako, Kenichi ^a   Takemoto, Megumi ^a   Ihara, Kenji ^a   Kuromaru, Ryuichi ^a   Kohno, Hitoshi ^a   Hara, Toshiro ^a  

^a FUKUOKA CHILDREN S HOSPITAL   (Japan)

Author keywords

Anophthalmia; GH and gonadotropin deficiency; HESX1 gene; Septo optic dysplasia

Indexed keywords

FOLLITROPIN; GONADORELIN; GONADOTROPIN; GROWTH HORMONE; LUTEINIZING HORMONE; PRASTERONE SULFATE; PROTIRELIN; SOMATOMEDIN C; TESTOSTERONE; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HESX1; UNCLASSIFIED DRUG;

ADOLESCENT; ANOPHTHALMIA; ARTICLE; CASE REPORT; CORPUS CALLOSUM; CRYPTORCHISM; DISEASE ASSOCIATION; FACE DYSMORPHIA; GENE MUTATION; GONADOTROPIN DEFICIENCY; GROWTH HORMONE DEFICIENCY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOPHYSIS DISEASE; HYPOTHALAMUS DISEASE; KARYOTYPE; MALE; MENTAL DEFICIENCY; MICROPENIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE HYPOPLASIA; SEPTOOPTIC DYSPLASIA; SEPTUM PELLUCIDUM;

EID: 0036188511     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.49.15     Document Type: Article

References (26)

1. Heritable disorders of pituitary development
2. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene
3. Mutations in PROP1 cause familial combined pituitary hormone deficiency
4. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
5. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
6. Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)-evaluation and follow up of 18 patients
7. Growth hormone deficiency of hypothalamic origin in septo-optic dysplasia
8. Neuropathology of "septo-optic dysplasia" (de Morsier syndrome) with immunohistochemical studies of the hypothalamus and pituitary gland
9. Etudes sur les dysraphies cranioencephaliques. III: Agenesie du septum lucidum avec malformation du tractus optique: La dysplasie septo-optique
10. Syndrome of septo-optic-pituitary dysplasia: The clinical spectrum
11. Two cases of septo-optic dysplasia (SOD)
12. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
13. The panpituitary activator of transcription, Ptx1 (pituitary homeobox 1), acts in synergy with SF-1 and Pit1 and is an upstream regulator of the Lim-homeodomain gene Lim3/Lhx3
14. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3
15. Hindlimb patterning and mandible development require the Ptx1 gene
16. Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development
17. New observations on midline defects: Coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders
18. Unique case of growth hormone (GH) deficiency accompanied by clinical anophthalmia, hypoplastic orbits, digital dysplasia, short stature, obesity, and diabetes mellitus
19. Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities
20. A case of deletion 14(q22.1->q22.3) associated with anophthalmia and pituitary abnormalities
21. Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia
22. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies
23. Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalk
24. Mouse small eye results from mutations in a paired-like homeobox-containing gene
25. The human PAX6 gene is mutated in two patients with aniridia
26. Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development