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Copyright V. Ventruto / A. Di Luccio Genus database 20980 pituitary dwarfism III Eponyms: Inheritance: ateliotic dwarfism with hypogonadism Hanhart dwarfism panhypopituitarism autosomal recessive Semeiological Endocrino-skeletal disorder. Normal birth length, proportionate dwarfism, first year onset, excess subcutaneous adipose tissue, high-pitched voice, soft wrinkled skin, child-like face, skeletal bone age Synthesis: retardation, hypogonadism. Occasionally, rigid cervical spine. Group Sub group Signs: DERMATOLOGICAL DISORDERS cutis, changes in appearance and/or features cutis, wrinkled ENDOCRINOLOGICAL, METABOLIC DISORDERS obesity obesity, total GENITAL DISORDERS genital dysfunctions hypogenitalism, hypogonadism; small testes, microorchidism, hypoplastic scrotum LABORATORY DATA adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia biochemical markers metabolic defect chromosomal assignment chromosome 9q localization gene, structural-functional anomalies gene analysis-DNA analysis LHX3, gene chr.9q34.3 pituitary hormones, modified functions pituitary adrenocorticotropic hormone (ACTH), low levels prolactin (PRL), low levels, hypoprolactinemia somatocrinin (growth hormone-releasing factor, GHRF), low levels plasma nonprotein-organic constituents, anomalies hypoglycemia plasma proteins, anomalies hormones, dysfunctions OROCRANIOFACIAL ANOMALIES facies, modified appearance facies, beard absence facies, round; moon face, doll-like OTHERS inheritance inheritance, autosomal recessive supergroups cutaneous-genito-skeletal disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, metabolic RESPIRATORY DISORDERS larynx, changes voice, high; pitched voice SKELETAL DISORDERS pituitary dwarfism III Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database ossification, changes bone age, delayed spine, changes spine, rigidity stature, growth, modified habitus stature, very short Super group: cutaneous-genito-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS hormones, dysfunctions Differential diagnosis: Bibliography pituitary dwarfism III 590 ACTH deficiency, isolated 7874 dwarfism proportionate-hip dislocation syndrome 27930 hypopituitarism- central diabetes insipidus 14780 Levi dwarfism 20975 pituitary dwarfism II 21000 pituitary dwarfism, Ferrier-Stone type 7681 pituitary hormone deficiency, combined 23995 somatomedin C deficiency 25410 thyrotropin, deficiency OMIM ID: 262600 OMIM ID: 600577 Nature Genet. 25,182-186,2000 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 595 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.1982,2007 Page 2 of 2
