Rumination Syndrome

1982 ◽  
Vol 3 (8) ◽  
pp. 246-246
Keyword(s):  
Differential Diagnosis ◽  
Gastroesophageal Reflux ◽  
Congenital Adrenal Hyperplasia ◽  
Pyloric Stenosis ◽  
Early Life ◽  
Failure To Thrive ◽  
Maternal Deprivation ◽  
Adrenal Hyperplasia ◽  
Rumination Syndrome

Voluntary (?) regurgitation of food, called rumination, has its onset as early as the second month of life, but generally is seen in infants 6 to 8 months old. Failure to thrive may be a consequence. A psychosomatic basis is frequently implicated with maternal deprivation being the major presumed etiology. Rumination does not usually occur when the infant is observed unless he is undistracted; the child's pleasure and satisfaction with regurgitation is often noted. Reestablishment of effective and consistent mothering is the most reliable therapy. The differential diagnosis includes gastroesophageal reflux and its associated peculiar posturing (Sandifer syndrome). Gastroesophageal reflux usually presents with symptoms beginning in the first month of life as do pyloric stenosis and congenital adrenal hyperplasia, other causes of vomiting in early life.(R.H.R.)

The Incidence of Associated Anomalies in 105 Patients with Congenital Adrenal Hyperplasia

PEDIATRICS ◽  
1972 ◽  
Vol 49 (4) ◽  
pp. 608-610 ◽  
Author(s):  
Rebecca T. Kirkland ◽  
John L. Kirkland ◽  
Leon Librik ◽  
George W. Clayton
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Failure To Thrive ◽  
Ambiguous Genitalia ◽  
Associated Anomalies ◽  
Adrenal Hyperplasia ◽  
Electrolyte Metabolism ◽  
Developmental Anomalies ◽  
Adrenal Steroid ◽  
Common Defect

A survey of 105 patients with defective adrenal steroid 21-hydroxylation, the most common defect in congenital adrenal hyperplasia, has been carried out to determine the presence of additional congenital or developmental anomalies. The following is a report of this survey. The diagnosis of congenital adrenal hyperplasia was suspected in infants who presented with ambiguous genitalia or with defect in electrolyte metabolism manifested by failure to thrive, vomiting and dehydration with hyponatremia and hyperkalemia. Measurement of elevated levels of urinary 17-ketosteroids, 11-keto pregnantriol and pregnantriol confirmed the diagnosis. Seventy-two (68.6%) of the 105 patients surveyed demonstrated defects in electrolyte metabolism and 39 of these were males.

Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers

2006 ◽  
Vol 149 (2) ◽  
pp. 268-270
Author(s):  
Pisit Pitukcheewanont ◽  
Saroj Nimkarn ◽  
Juliana Austin ◽  
Zadok Sack ◽  
Lynda K. Fisher
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Pyloric Stenosis ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency

scholarly journals Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Jennifer L. Flint ◽  
Jill D. Jacobson
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Failure To Thrive ◽  
Zona Glomerulosa ◽  
Normal Male ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.

scholarly journals Cystic fibrosis and congenital adrenal hyperplasia: A rare occurrence with diagnostic dilemmas, similarities and contradictions

2020 ◽  
Vol 4 (1) ◽  
pp. 018-020
Author(s):  
Nabavi Mohammad ◽  
Rezaeifar Parisa ◽  
Fallahpour Morteza ◽  
Arshi Saba ◽  
Bemanian Mohammad Hassan ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Congenital Adrenal Hyperplasia ◽  
Respiratory Infections ◽  
Pancreatic Enzyme ◽  
Gene Mutations ◽  
Failure To Thrive ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Multiple Systems ◽  
21 Hydroxylase Deficiency

Cystic fibrosis (CF) is a hereditary syndrome composed of exocrine gland dysfunction involving multiple systems which if untreated may result in chronic respiratory infections, pancreatic enzyme deficiency and failure to thrive. The association between CF and other inherited diseases or congenital anomalies is rare. We describe a rare case of CF with concomitant congenital adrenal hyperplasia (CAH). 21- Hydroxylase deficiency accounts for most CAH cases. Varity in clinical phenotypes depends on the amount of enzymatic activity which in turn depends on different combination of gene mutations. The genes of CAH and CF are located in different locations. The chance of these diseases coexisting in our patient would be a rare combination. However, such a case will be more frequent in our population than others because of consanguineous marriage and common ancestors. There are diagnostic difficulties, similarities and contradictions between two diseases and they are pointed out.

Hirsutism and Hyperandrogenism

2019 ◽  
Author(s):  
Deborah E. Ikhena ◽  
Lubna Pal
Keyword(s):  
Differential Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Diagnosis And Treatment ◽  
Androgenetic Alopecia ◽  
Adrenal Hyperplasia ◽  
Menstrual Irregularities

Hirsutism is defined as the presence in females of terminal, or dark, coarse hairs that grow in a pattern normally seen in males. The presence of hirsutism is commonly associated with excess androgen production (hyperandrogenism) and warrants further evaluation. In addition to hirsutism, hyperandrogenism may also present clinically as acne, androgenetic alopecia, and menstrual irregularities. Regardless of the severity, hirsutism can be a very disconcerting problem for women and should be addressed with concern and sympathy by clinicians. This review discusses the epidemiology, etiology, physiology, diagnosis, differential diagnosis, and treatment of hirsutism.  This review contains 3 figures, 26 tables, and 125 References.  Keywords: Hirsutism, androgen, hyperandrogenism, hair, depilation, epilation, nonclassic congenital adrenal hyperplasia

UNUSUAL HETEROZYGOTES OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY

1978 ◽  
Vol 87 (3) ◽  
pp. 557-565 ◽  
Author(s):  
M. Zachmann ◽  
A. Prader
Keyword(s):  
Differential Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
High Plasma ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Clinically Normal ◽  
Idiopathic Hirsutism ◽  
Basal Plasma ◽  
21 Hydroxylase Deficiency

ABSTRACT Three otherwise healthy relatives of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and salt-wasting presented with clinical and/or biochemical findings, which exceeded those usually seen in heterozygotes: Two females (1 mother and 1 prepubertal sister of a patient with CAH) had marked hypertrichosis and hirsutism and excreted pregnanetriolone in their urine. The mother had increased basal plasma 17α-OH-progesterone (296 ng/100 ml), which increased to 7170 ng/100 ml after ACTH as in homozygotes of CAH. One adult male (brother of a patient with CAH) was clinically normal, but also excreted pregnanetriolone and had a high plasma 17α-OH-progesterone (1905 ng/100 ml), which increased further to 6352 ng/100 ml after ACTH. It is concluded that these subjects represent unusually marked heterozygotes of CAH rather than mild homozygotes. In females, this condition should be included in the differential diagnosis of idiopathic hirsutism, in males, it will pass unnoticed, unless relatives of patients with CAH are systematically tested.

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