Clinical Characteristics, Etiologies and Pathophysiology of Patients with Severe Short Stature with Severe GH Deficiency: Questionnaire Study on the Data Registered with the Foundation for Growth Science, Japan
| Autor: | Yutaka Igarashi, Hiroyuki Tanaka, Yukihiro Hasegawa, Takakuni Tanizawa, Naomi Hizuka, Keinosuke Fujita, Kunihiko Hanew, Katsuhiko Tachibana, Takeki Hirano, Akira Teramoto, Yoshikazu Nishi, Susumu Yokoya, Toshiaki Tanaka, Kenji Fujieda, Akira Shimatsu |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Hormone Replacement Therapy Endocrinology Diabetes and Metabolism Dwarfism Gene mutation Short stature Achondroplasia Growth hormone deficiency Consanguinity Endocrinology Atrophy Surveys and Questionnaires medicine Humans Child Dwarfism Pituitary Pituitary stalk business.industry Age Factors medicine.disease Magnetic Resonance Imaging Body Height Radiography Pituitary Hormones Growth Hormone Pituitary Gland IGHD Female medicine.symptom Transcription Factor Pit-1 business |
| Zdroj: | Endocrine Journal. 53:259-265 |
| ISSN: | 1348-4540 0918-8959 |
| DOI: | 10.1507/endocrj.53.259 |
| Popis: | In this study, we sent questionnaires to doctors treating severe short stature with severe GH deficiency (GHD) (height SDS (HtSDS) below -4 and all peak GH to provocative stimuli below 2 micro/L) (abbreviated as Severe Case), and obtained effective replies of 51 cases. The clinical characteristics, etiologies, and pathophysiology of these patients were examined. Among the 51 Severe Cases no consanguinity was observed, 44 were IGHD (24 males and 20 females), 3 were GH-1 gene deletion, 2 were Pit-1 gene mutation, and 2 were achondroplasia. HtSDS in these Severe Cases was already remarkably low at 12 (-3.0) and 24 months old (-3.9), while their birth weight and birth length were within normal ranges. Among 44 patients with IGHD, 12 were isolated GHD, and the remaining 32 were combined pituitary hormone deficiency (CPHD). Pituitary MRI was undergone in 25 idiopathic GHD, and abnormal findings (pituitary atrophy, interruption of stalk, and ectopic posterior lobe) were observed in 21 patients with CPHD. More than half of these patients had the history of breech delivery. Three patients with GH-1 gene mutation showed normal pituitary MRI, whereas one of two patients with Pit-1 mutation showed pituitary atrophy and narrowing of pituitary stalk. In conclusion, Severe Cases tended to have CPHD, and the incidence of Severe Case was only 0.6% of total IGHD. Although GHD due to genetic disorders is considered to be extremely rare (0.06% of total IGHD), the incidence reaches high levels (9.8%) among Severe Cases. Growth disorders in these Severe Cases seem to occur soon after delivery. Much earlier diagnosis and hGH treatment are desirable to attain better final height in the Severe Cases. GH-1 and Pit-1 gene analyses are crucial, when genetic abnormalities other than achondroplasia are suspected. |
| Databáze: | OpenAIRE |
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