In 1980, the clinical syndrome of X-linked agammaglobulinemia and isolated growth hormone defieiency (XLA/IGHD) was first described by Fleisher. We report here 25-year old man with isolated growth hormone deficiency and X-linked agammaglobulinemia. His height was below the third percentile. He had recurrent sinopulmonary infection, lacked circulating B lympocytes and had deficient growth hormone.
Adult ; Agammaglobulinemia* ; Dwarfism, Pituitary ; Growth Hormone ; Humans

Growth hormone deficiency (GHD) is a common cause of dwarfism. Most GHD patients are sporadic, whilst 5%-30% are of familial type. X-linked GHD patients are relatively rare. We hereby provide a literature review and report on our latest findings of the disease.
Dwarfism, Pituitary ; diagnosis ; genetics ; Genetic Association Studies ; Humans

We experienced one case of severe pituitary dwarfism in a 16 years old male boy that magnetic resonance image(MRI) revealed transection of the pituitary stalk with the ectopic location of posterior pituitary gland and hypoplastic anterior pituitary gland. The serum growth horrnone(GH) response to clonidine and L-dopa revealed severe GH deficiency. The patient revealed normal response in TSH, prolactin and LH, FSH to TRH and LHRH respectively. So far, the primary cause of idiopathic pituitary dwarfism in many patients was due to hypoxic injury to hypothalmus by perinatal insults. In this patients, there was no history of perinatal insults and postnatal head trauma. We report a case of severe dwarfism due to hypogenesis of anterior pituitary gland.
Clonidine ; Craniocerebral Trauma ; Dwarfism ; Dwarfism, Pituitary ; Gonadotropin-Releasing Hormone ; Humans ; Levodopa ; Male ; Pituitary Gland ; Pituitary Gland, Anterior ; Pituitary Gland, Posterior ; Prolactin

OBJECTIVETo elucidate the curative and adverse effect of recombinant human growth hormone (rhGH) in 2 patients with isolated-growth hormone deficiency type IA (IGHDIA), to track sexual development and pregnancy, and reassess the quality of life in the adulthood.

METHODThe authors summarized the data of 2-sister cases with IGHDIA; followed up for assessment of height, weight, blood pressure and sexual development; detected fasting blood lipids, glucose, insulin, insulin growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3); made an investigation of education and occupation, and so on.

RESULTAfter 6.2 and 7.3 years treatment with rhGH, the two sisters had considerably improved height from -7.8 SDS, -8.8 SDS to -2.6 SDS and -1.3 SDS respectively. No evident side effect was observed. They had normal sexual development and pregnancy. The levels of IGF-1 and IGFBP-3 were still low, in the elder sister they were 46.6 µg/L, 2460 µg/L, and in the younger 52.4 µg/L, 2430 µg/L. No hyperlipidemia, diabetes or obesity occurred.

CONCLUSIONLong term therapy with rhGH may improve final adult height of individuals with IGHDIA. They can have normal sexual development and pregnancy. Metabolic syndrome did not occur during the follow-up period.

Child ; Dwarfism, Pituitary ; classification ; therapy ; Female ; Follow-Up Studies ; Human Growth Hormone ; therapeutic use ; Humans ; Siblings

OBJECTIVE: To study the etiology and genetic diagnosis of children with short stature. METHODS: A retrospective analysis was performed to study the etiological distribution and clinical features of 86 children with short stature. RESULTS: A total of 6 causes were observed in these children, among which idiopathic short stature (ISS, 41%) and growth hormone deficiency (GHD, 29%) were the most common causes, followed by genetic diseases (14%). There were no significant differences in age at the time of diagnosis, body height, body length and weight at birth, body height of parents and insulin-like growth factor-1 levels between the genetic disease group and the ISS/GHD groups (P>0.05). Compared with the ISS group, the genetic disease group had significantly lower deviation from the 3rd percentile for the height of children of the same age and sex (ΔP3) and height standard deviation score (P<0.05), while there were no significant differences between the genetic disease and GHD groups (P>0.05). The analysis of the clinical manifestations for the genetic disease group showed heterogeneity and phenotypic overlap in children with different genetic diseases. CONCLUSIONS ISS, GHD and genetic diseases are major causes of short stature in children. For children with severe short stature, genetic testing should be performed to make a definitive diagnosis after GHD has been excluded.
Body Height ; Child ; Dwarfism, Pituitary ; Genetic Testing ; Growth Disorders ; Human Growth Hormone ; Humans ; Retrospective Studies

Hypopituitarism is not a common cause of delayed puberty, however it should always be considered, especially if there are such signs as severe dwarfism, dollish face, truncal obesity, small hands and feet, and microgenitalia. Either congenital or acquired, hypopituitarism can be resulted from hypothalamic and hypophyseal lesions. The clinical feature can be diverse depending on age of the patients, rate of progression, degree of hormone deficiency and characteristics of the lesion. The recent high interest in delayed puberty and the improved detection of hypothalamic hypophyseal lesions using combined pituitary fuction stimulation test, brain CT and MRJ, has made the differential diagnosis of hypopituitarism possible as the cause of delayed puberty. MRI has shown hypophyeal hypoplasia accompanied by anterior pituitary hypoplasia and ectopic neurohypophysis in some of the patients with hypopituitasm, and although the anatomical abnormality around the hypophysis in these patients is considered the reason for hypopituitarism, the pathogensis of which has not yet to be known. We, here, report a case of delayed puberty by hypopituitarism due to hypoplasia of anterior pituitary gland, pituitary stalk agenesis and ectopic neurohypophysis with brief review of the litereature.
Brain ; Diagnosis, Differential ; Dwarfism ; Foot ; Hand ; Humans ; Hypopituitarism ; Magnetic Resonance Imaging ; Obesity ; Pituitary Gland* ; Pituitary Gland, Anterior* ; Pituitary Gland, Posterior* ; Puberty, Delayed*

Recombinant human growth hormone is generally safe in treating children with growth hormone deficiency and idiopathic short stature. However, side effects such as sodium and water retention, benign intracranial hypertension, insulin insensitivity, increasing risk of secondary neoplasm, scoliosis, and slipped capital femoral epiphysis may occur occasionally, although the overall incidence remains low.
Dwarfism ; drug therapy ; Dwarfism, Pituitary ; drug therapy ; Human Growth Hormone ; adverse effects ; deficiency ; therapeutic use ; Humans ; Recombinant Proteins ; adverse effects ; therapeutic use

PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD). MATERIALS AND METHODS: This study included 27 patients with sporadic IGHD and CPHD. A mutation analysis of the POU1F1, PROP1, LHX3, LHX4, and HESX1 genes was performed using genomic DNA from peripheral blood leukocytes. RESULTS: IGHD and CPHD were observed in 4 and 23 patients, respectively. Mean age at diagnosis was 8.28±7.25 years for IGHD and 13.48±10.46 years for CPHD (p=0.37). Serum insulin-like growth factor-1 and peak growth hormone (GH) levels following GH stimulation tests were significantly lower in patients with CPHD than in those with IGHD (p<0.05). Sellar MRI findings revealed structural abnormalities in 3 patients with IGHD (75%) and 21 patients with CPHD (91.3%) (p=0.62). A mutation analysis identified homozygous p.R109Q mutations in HESX1 in a patient with CPHD. Patients with CPHD had more severe GHD than those with IGHD. CONCLUSION: The frequency of defects in the genes encoding pituitary transcription factors was extremely low in Korean patients with congenital hypopituitarism. Environmental factors and the impact of other causative genes may contribute to this clinical phenotype.
Diagnosis ; DNA ; Dwarfism, Pituitary ; Growth Hormone* ; Humans ; Hypopituitarism ; Korea* ; Leukocytes ; Magnetic Resonance Imaging ; Mutation Rate ; Phenotype ; Transcription Factors*

Objective To analyze the clinical characteristics of pituitary stalk interruption syndrome(PSIS). Methods The clinical data including clinical manifestations,laboratory tests,and imaging findings of 114 PSIS patients in our hospital were retrospectively analyzed. Results Of these 114 PSIS patients,102 cases (89.4%) were male. The average age was 21.1?6.1 years. A history of breech delivery was documented in 91 cases (91.9%). Short stature was found in 89 cases (71.8%) and bone age delayed (6.1?5.1) years. Secondary sex characteristics were poor or undeveloped in most patients. The prevalence of deficiencies in growth hormone,gonadotropins,corticotropin,and thyrotropin were 100.0%,94.0%,84.2%,and 74.6%,respectively. Hyperprolactinemia was found in 28.1% of patients. Three or more pituitary hormone abnormalities were found in 105 cases(92.1%). Compared with the 5 cases with history of cephalic delivery,no difference were found in the aspects of height(t=0.297,P=0.634),penile length(t=1.205,P=0.882),testicular volume (U=99.000,P=0.348),growth hormone peak (U=89.000,P=0.186),adrenocorticotropic hormone peak(U=131.000,P=0.967),luteinizing hormone peak(U=98.500,P=0.582),thyroid-stimulating hormone (U=82.000,P=0.162),and the height of anterior pituitary (t=1.676,P=0.107) in the 53 cases with history of breech delivery. Conclusions The clinical manifestations,symptoms,hormone deficiencies were severe in our series. The condition severities were not remarkably different in patients with different delivery ways.
Adolescent ; Adult ; Dwarfism ; etiology ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Pituitary Diseases ; complications ; physiopathology ; Pituitary Gland ; pathology ; Prevalence ; Retrospective Studies ; Young Adult

We experienced one case of severe pituitary dwarfism in a 10 years old female girl. Magnetic resonance image (MRI) revealed transection of the pituitary stalk stalk with the formation of high intensity ectopic posterior lobe located at the median eminence and agenesis of an anterior lobe of pituitary gland. The serum growth Hormone (GH) response to clonidine and L-dopa revealed severe GH deficiency. The patient had responses to TRH, normal TSH and partial prolactin response, respectively. There was not response LH and FSH to GnRH. The morning cortisol concentration and serum T4 concentration were decreased below the normal range. These findings and no hyperprolactinemia suggested the presence of a vascular connection between the pituitary gland and hypothalamus, which is not visible on MRI. Sofar, the primary cause of idiopathic pituitary dwarfism in many patients is injury to hypothalamus by perinatal insults. In this patient, there was no history of perinatal insults and postnatal head trauma but transection of the pituitary stalk. We report a case of severe pituitary dwarfism due to agenesis with brief review of related litereature.
Child ; Clonidine ; Craniocerebral Trauma ; Dwarfism, Pituitary* ; Female ; Gonadotropin-Releasing Hormone ; Growth Hormone ; Humans ; Hydrocortisone ; Hyperprolactinemia ; Hypothalamus ; Levodopa ; Magnetic Resonance Imaging ; Median Eminence ; Pituitary Gland* ; Pituitary Gland, Anterior* ; Prolactin ; Reference Values