No abstract available.
Adrenal Hyperplasia, Congenital* ; Adrenogenital Syndrome*

The features of the symptoms, laboratory tests and pathological characteristics of adrenal cortical and medullary hyperplasia were studied. In 6 cases of hypercatecholaminenia, plasma norepinephrine (NE), epinephrine (E), catecholamine (CA) and 24-h urinary vanillylmandelic acid (VMA), 17-hydroxycorticosteroid (OHCS) and 17-ketosteroid (KS) were determined. Adrenal glands were examined by CT scan and 131I-MIBG imaging. Pathological examination was performed after operation. The results showed that in 6 cases of hypercatecholaminenia (3 men and 3 women) aged from 34-50 years, the clinical features were just like "pheochromocytoma", for example, episodic headache, perspiration, palpitation, pallor, apprehension, nausea, tremor, anxiety and so on. Plasma levels of CA, NE and E were elevated in all 6 cases. 24-h urinary samples obtained at the onset revealed elevated VMA in 1 case. 24-h urinary cortisol was obviously elevated in all 6 cases. 24-h urinary 17-OHCS, 17-KS was normal. B-type ultrasound, CT, MRI and 131I-MIBG revealed 9 lateral adrenal gland diffuse or nodular enlargement in 6 cases. Pathologic examination showed adrenal cortical and medullary hyperplasia. Clinically, adrenal cortical and medullary hyperplasia resembled "pheochromocytoma". The most significant feature of this disease was both elevated plasma CA and 24-h urinary cortisol obviously. Pathologic examination showed adrenal cortex nodular hyperplasia and medullar diffuse or limit hyperplasia. Whether it is an independent disease or symptoms of the other disease has not final conclusion up till now.
Adrenal Cortex/*pathology ; Adrenal Gland Diseases/*pathology ; Adrenal Medulla/*pathology ; Adrenocortical Hyperfunction/*pathology ; Catecholamines/blood ; Hyperplasia ; Hypertension/etiology ; Retrospective Studies

Congenital adrenal hyperplasia, an autosomal recessive disorder resulting from an enzymatic defect during cortisol biosynthesis (i.e., 21-hydroxylase deficiency), is characterized by impaired production of cortisol with or without impaired production of aldosterone, chronic stimulation of the adrenal cortex by corticotropin, and overproduction of cortisol precursors and androgens. The severity of the hormonal abnormalities and clinical symptoms depend on the degree of enzymatic activity. Phenotypes are classified into the following types: the severe salt-wasting type, the simple virilizing type, and the non-classic type. Despite adequate treatment, patients may be at risk for salt-wasting adrenal crisis, precocious puberty, short stature, infertility, psychosocial problems, and tumor formation, including adrenal incidentaloma. Here we present a case of adrenal incidentaloma in a 14-year-old boy who was eventually diagnosed with congenital adrenal hyperplasia due to a 21-hydroxylase deficiency. The patient had a history of salt-wasting adrenal crisis, but survived without continuous glucocorticoid and mineralocorticoid treatment. Note also that both plasma aldosterone and plasma renin activity were elevated in this case.
Adolescent ; Adrenal Cortex ; Adrenal Gland Neoplasms ; Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Aldosterone ; Androgens ; Humans ; Hydrocortisone ; Infertility ; Phenotype ; Plasma ; Puberty, Precocious ; Renin ; Steroid 21-Hydroxylase

The features of the symptoms, laboratory tests and pathological characteristics of adrenal cortical and medullary hyperplasia were studied. In 6 cases of hypercatecholaminenia, plasma norepinephrine (NE), epinephrine (E), catecholamine (CA) and 24-h urinary vanillylmandelic acid (VMA), 17-hydroxycorticosteroid (OHCS) and 17-ketosteroid (KS) were determined. Adrenal glands were examined by CT scan and 131I-MIBG imaging. Pathological examination was performed after operation. The results showed that in 6 cases of hypercatecholaminenia (3 men and 3 women) aged from 34-50 years, the clinical features were just like "pheochromocytoma", for example, episodic headache, perspiration, palpitation, pallor, apprehension, nausea, tremor, anxiety and so on. Plasma levels of CA, NE and E were elevated in all 6 cases. 24-h urinary samples obtained at the onset revealed elevated VMA in 1 case. 24-h urinary cortisol was obviously elevated in all 6 cases. 24-h urinary 17-OHCS, 17-KS was normal. B-type ultrasound, CT, MRI and 131I-MIBG revealed 9 lateral adrenal gland diffuse or nodular enlargement in 6 cases. Pathologic examination showed adrenal cortical and medullary hyperplasia. Clinically, adrenal cortical and medullary hyperplasia resembled "pheochromocytoma". The most significant feature of this disease was both elevated plasma CA and 24-h urinary cortisol obviously. Pathologic examination showed adrenal cortex nodular hyperplasia and medullar diffuse or limit hyperplasia. Whether it is an independent disease or symptoms of the other disease has not final conclusion up till now.
Adrenal Cortex ; pathology ; Adrenal Gland Diseases ; pathology ; Adrenal Medulla ; pathology ; Adrenocortical Hyperfunction ; pathology ; Adult ; Catecholamines ; blood ; Female ; Humans ; Hyperplasia ; Hypertension ; etiology ; Male ; Middle Aged ; Retrospective Studies

OBJECTIVETo discuss the treatment of male adrenogenital syndrome.

METHODSThe clinical data of 17 patients with male adrenogenital syndrome, including 15 cases of congenital adrenal hyperplasia (CAH) and 2 cases of adrenocortical tumors, were analyzed retrospectively. The patients with 21-hydroxylase deficiency (21-OHD) and 11beta-hydroxylase deficiency (11beta-OHD) were treated with adrenocortical hormone, those with 17-hydroxylase deficiency (17-OHD) received sexual glands excision and estrogen besides adrenocortical hormone, and those with adrenocortical tumors underwent surgical removal.

RESULTSSexual precocity symptoms disappeared and abnormal laboratory results returned to normal in 5 of the 21-OHD patients, who adhered to hormone treatment, and height growth was improved in the other 2, who received the medicine at an early age. The testicular adrenal rest (TAR) tumor was reduced dramatically in 1 case of 21-OHD after treatment. A left TAR found in another 21-OHD patient who discontinued the hormone therapy became softened after the resumption. Sperm could be seen in the semen of 3 21-OHD patients, but in small quantity and of poor quality. One 11beta-OHD patient with sexual precocity symptoms and hypertension became normal after the hormone treatment, and six 17-OHD patients maintained their female sexuality after the hormone treatment and operation. No relapse was found after resection of the adrenocortical tumors.

CONCLUSIONAdrenocortical hormone therapy helps improve the height growth and testicular function of CAH patients, and surgical removal is necessary for adrenocortical tumors.

Adolescent ; Adrenal Cortex Neoplasms ; surgery ; Adrenal Hyperplasia, Congenital ; drug therapy ; Adrenogenital Syndrome ; drug therapy ; surgery ; therapy ; Adult ; Child ; Child, Preschool ; Glucocorticoids ; therapeutic use ; Humans ; Infant ; Infant, Newborn ; Male ; Retrospective Studies

Hyperadrenocorticism, a disorder characterized by excessive production of cortisol by the adrenal cortex, is wellrecognized in dogs. A 10-year-old, intact male, Yorkshire terrier dog was evaluated because of corneal ulceration and generalized alopecia. Diagnosis was made based on history taking, clinical signs, physical examination, and results of routine laboratory testing (complete blood count, serum biochemical analysis, and urinalysis). In addition, adrenocorticotropic hormone (ACTH) stimulation test and abdominal ultrasonography were also used to diagnose this case. The patient was diagnosed as adrenal gland neoplasia and medical therapy using the adrenocorticolytic agent, mitotane, was initiated. An ACTH stimulation test was performed after initial therapy. After successful induction was obtained, maintenance therapy with mitotane still continued.
Adrenal Gland Neoplasms/complications/diagnosis/drug therapy/*veterinary ; Adrenocortical Hyperfunction/diagnosis/drug therapy/etiology/*veterinary ; Adrenocorticotropic Hormone/blood ; Animals ; Antineoplastic Agents, Hormonal/*therapeutic use ; Dog Diseases/*drug therapy ; Dogs ; Male ; Mitotane/*therapeutic use ; Radiography, Abdominal/veterinary ; Tomography, X-Ray/veterinary

Diagnosis of an adrenal tumor without typical clinical signs related to hyperadrenocorticism and elevated alkaline phosphatase is challenging. This report describes a sex hormone-secreting adrenal tumor in a 10-year-old castrated male Shih Tzu evaluated through repetitive ultrasonographic examination. An adrenocorticotropic hormone stimulation test revealed elevated concentrations of androstenedione and 17-hydroxyprogesterone but a normal cortisol concentration. A mass was surgically excised and adenoma was diagnosed histopathologically. In the present case, adrenal tumor was strongly suspected based on a gradual increase in adrenal size and a change from peanut shape to an irregular mass on repetitive ultrasonography. Repetitive ultrasonographic examination of the adrenal gland is recommended when an abnormal ultrasonographic appearance of adrenal gland is identified, even in an asymptomatic dog.
17-alpha-Hydroxyprogesterone ; Adenoma* ; Adrenal Gland Neoplasms ; Adrenal Glands ; Adrenocortical Hyperfunction ; Adrenocorticotropic Hormone ; Alkaline Phosphatase ; Androstenedione ; Animals ; Arachis ; Child ; Diagnosis ; Diagnostic Imaging ; Dogs ; Humans ; Hydrocortisone ; Male ; Ultrasonography

The adrenogenital syndrome owing to congenital adrenal hyperplasia is an inborn error of adreno-cortical metabolism, as a result of excessive adrenal androgens. producing heterosexual virlizing changes in females and isosexual precocity in males. Here, a case of adrenogenital syndrome developed in 14 year-old Korean female was presented. She had an enlarged clitoris and vaginal introitus communicated to the urethra interior to the urethral meatal opening at the perineum, resembling perineal hypospadiac penis. Exploration of the pelvic cavity and left adrenal gland revealed normal female internal genital organs and hyperplastic adrenal gland. Constructive operation including vaginoplasty and clitoridectomy was performed.
Adolescent ; Adrenal Glands ; Adrenal Hyperplasia, Congenital ; Adrenogenital Syndrome* ; Androgens ; Circumcision, Female ; Clitoris ; Female ; Genitalia ; Heterosexuality ; Humans ; Male ; Metabolism ; Penis ; Perineum ; Urethra

Adrenal Gland Diseases ; complications ; Adrenocortical Hyperfunction ; complications ; Humans ; Liver Failure ; complications

BACKGROUND: Congenital adrenal hyperplasia (CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. It appears that the frequency and the type of the responsible mutations differ according to the ethnic background and the type of mutation can predict the clinical outcomes such as salt losing type (SL), simple virilizing type (SV) and non-classic type (NC). METHODS: We have analyzed CYP21 genes in 55 Korean cases (110 chromosomes) of CAH by Southern blotting, PCR-dot hybridization and PCR amplification-created restriction site method. The patients include 43 cases of SL and 12 of SV. None of the NC was found. RESULTS: We found the mutations in 94% (103/110) of the examined chromosomes. A total of 10 types of mutations were discovered. The mutations include aberrant splicing of intron 2 (i2, 35%), CYP21 gene deletion (32%) and I172N (11%) in order. When the relationship between the clinical types and genotypes were correlated, most of the SL patients have either i2 (42%) or CYP21 gene deletion (41%), while SV patients have I172N (33%) or P30L (21%). The parents' mutation was investigated in 20 cases. In 4 families, one of the parents was not the obligatory heterozygote carrier i.e. did not have a mutation. The results suggest the high incidence of de novo mutation. CONCLUSION: We have identified the frequency of mutations of the CYP21 in Korean AGS patients. Our results shows that the clinical type of AGS can be predicted from the genotypes of CYP21. Also the high incidence of de novo mutation of CYP21 confirmed the genetic instability of major histocompatibility III region where the CYP21 is located.
Adrenal Hyperplasia, Congenital ; Adrenogenital Syndrome* ; Blotting, Southern ; Cholesterol ; Gene Deletion ; Genotype* ; Heterozygote ; Histocompatibility ; Humans ; Hydrocortisone ; Incidence ; Introns ; Parents ; Phenotype* ; Polymerase Chain Reaction ; Steroid 21-Hydroxylase*