title: Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.
abstract: Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some authors suggest that it is a mild manifestation of the wide spectrum of holoprosencephaly, others classify it rather as a distinct entity. Authors report a case of SMMCI presenting with growth retardation, mild intellectual disability and absence of puberty. Cytogenetic and molecular cytogenetic investigations could identify no abnormalities. The presence of a single maxillary incisor called for further investigations to clarify hidden anomalies, these were empty sella, panhypopituitarism, hypothyroidism, and hypoplasia of the inner genitals. Based on the above findings, growth hormone, estrogen, and L-thyroxine substitution was introduced, which resulted in satisfactory longitudinal growth and onset of sexual maturation. We suggest genetic counselling and if needed, invasive investigations in female patients with short stature and absent/delayed puberty, with or without sex chromosomal anomalies, as the adequate therapy and even the quality of life of patient depends largely on the knowledge of their anatomical and endocrine status.
authors.affiliation: Inst. of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical & Health Science Center, 4012 Debrecen, Nagyerdei krt. 98., Hungary. szakszon@med.unideb.hu
authors.forename: Katalin
authors.initials: K
authors.lastname: Szakszon
authors.forename: Enikő
authors.initials: E
authors.lastname: Felszeghy
authors.forename: István
authors.initials: I
authors.lastname: Csízy
authors.forename: Tamás
authors.initials: T
authors.lastname: Józsa
authors.forename: Rita
authors.initials: R
authors.lastname: Káposzta
authors.forename: Erzsébet
authors.initials: E
authors.lastname: Balogh
authors.forename: Eva
authors.initials: E
authors.lastname: Oláh
authors.forename: István
authors.initials: I
authors.lastname: Balogh
authors.forename: Ervin
authors.initials: E
authors.lastname: Berényi
authors.forename: Alida C
authors.initials: AC
authors.lastname: Knegt
authors.forename: István
authors.initials: I
authors.lastname: Ilyés
mesh_terms: D000015:Abnormalities, Multiple; D000848:Anodontia; D004359:Drug Therapy, Combination; D004703:Endocrine System; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D035583:Rare Diseases / Q000628:therapy*; D013577:Syndrome; D016896:Treatment Outcome