Find information on thousands of medical conditions and prescription drugs.

Swyer syndrome

Swyer syndrome, or XY gonadal dysgenesis, is a type of female hypogonadism in which no functional gonads are present to induce puberty in an otherwise normal girl whose karyotype is then found to be XY. Her gonads are found to be nonfunctional streaks. Estrogen and progesterone therapy is usually then commenced. The gonads are normally removed surgically because they do not function and may develop cancer. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
Sabinas brittle hair...
Saccharopinuria
Sacral agenesis
Saethre-Chotzen syndrome
Salla disease
Salmonellosis
Sandhoff disease
Sanfilippo syndrome
Sarcoidosis
Say Meyer syndrome
Scabies
Scabiophobia
Scarlet fever
Schamberg disease...
Schistosomiasis
Schizencephaly
Schizophrenia
Schmitt Gillenwater Kelly...
Sciatica
Scimitar syndrome
Sciophobia
Scleroderma
Scrapie
Scurvy
Selachophobia
Selective mutism
Seminoma
Sensorineural hearing loss
Seplophobia
Sepsis
Septo-optic dysplasia
Serum sickness
Severe acute respiratory...
Severe combined...
Sezary syndrome
Sheehan syndrome
Shigellosis
Shingles
Shock
Short bowel syndrome
Short QT syndrome
Shprintzen syndrome
Shulman-Upshaw syndrome
Shwachman syndrome
Shwachman-Diamond syndrome
Shy-Drager syndrome
Sialidosis
Sickle-cell disease
Sickle-cell disease
Sickle-cell disease
Siderosis
Silicosis
Silver-Russell dwarfism
Sipple syndrome
Sirenomelia
Sjogren's syndrome
Sly syndrome
Smallpox
Smith-Magenis Syndrome
Sociophobia
Soft tissue sarcoma
Somniphobia
Sotos syndrome
Spasmodic dysphonia
Spasmodic torticollis
Spherocytosis
Sphingolipidosis
Spinal cord injury
Spinal muscular atrophy
Spinal shock
Spinal stenosis
Spinocerebellar ataxia
Splenic-flexure syndrome
Splenomegaly
Spondylitis
Spondyloepiphyseal...
Spondylometaphyseal...
Sporotrichosis
Squamous cell carcinoma
St. Anthony's fire
Stein-Leventhal syndrome
Stevens-Johnson syndrome
Stickler syndrome
Stiff man syndrome
Still's disease
Stomach cancer
Stomatitis
Strabismus
Strep throat
Strongyloidiasis
Strumpell-lorrain disease
Sturge-Weber syndrome
Subacute sclerosing...
Sudden infant death syndrome
Sugarman syndrome
Sweet syndrome
Swimmer's ear
Swyer syndrome
Sydenham's chorea
Syncope
Syndactyly
Syndrome X
Synovial osteochondromatosis
Synovial sarcoma
Synovitis
Syphilis
Syringomas
Syringomyelia
Systemic carnitine...
Systemic lupus erythematosus
Systemic mastocytosis
Systemic sclerosis
T
U
V
W
X
Y
Z
Medicines

Pathogenesis

The first known step of sexual differentiation of a normal XY fetus is the development of testes. The early stages of testicular formation in the second month of gestation require the action of several genes, of which one of the earliest and most important is SRY, the "sex-determining region of the Y chromosome".

Mutations of SRY account for most cases of Swyer syndrome. When this gene is defective, testes fail to develop in an XY (genetically male) fetus. Without testes, no testosterone or antimullerian hormone are produced. Without testosterone the external genitalia fail to virilize, resulting in female genitalia. Without testosterone, the wolffian ducts fail to develop, so no internal male organs are formed. Without AMH the mullerian ducts develop into normal internal female organs (uterus, fallopian tubes, cervix, vagina).

A baby girl is born who is normal in all anatomic respects except that she has nonfunctional streak gonads instead of ovaries or testes. As girls' ovaries produce no important body changes before puberty, there is usually no suspicion of a defect of the reproductive system until puberty fails to occur.

Diagnosis

Because of the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex characteristics do not develop. This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual periods. Because the adrenal glands can make limited amounts of androgens and are not affected by this syndrome, most of these girls will develop pubic hair, though it often remains sparse.

Evaluation of delayed puberty usually reveals the presence of pubic hair, but elevation of gonadotropins, indicating that the pituitary is providing the signal for puberty but the gonads are failing to respond. The next steps of the evaluation usually include checking a karyotype and imaging of the pelvis. The karyotype reveals XY chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). At this point it is usually possible for a physician to make a diagnosis of Swyer syndrome.

Treatment

The consequences to the girl with Swyer syndrome of her streak gonads:

  1. Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen. This is often given through the skin now.
  2. Her gonads cannot make progesterone, so her menstrual periods will not be predictable until she is given a progestin, still usually as a pill.
  3. Her gonads cannot produce eggs so she will not be able to conceive children the natural way. A woman with a uterus but no ovaries may be able to become pregnant by implantation of another woman's fertilized egg (embryo transfer).
  4. Streak gonads with Y chromosome-containing cells have a high likelihood of developing cancer, especially gonadoblastoma. Rarely, this can begin as early as a few years of age, so the streak gonads are usually removed by surgery within a year or so after discovery of the diagnosis.

Read more at Wikipedia.org


[List your site here Free!]


An unusual case of left upper lobe pulmonary edema
From CHEST, 7/1/98 by Joshua Rice

This is a report of an unusual case of left, predominantly upper lobe, pulmonary edema secondary to paravalvular mitral regurgitation (MR) complicating mitral valve replacement. Transesophageal echocardiography proved helpful in making the diagnosis of MR and suggesting the mechanism of the pulmonary edema.

(CHEST 1998; 114:328-330)

Key words: mitral regurgitation; mitral valve; unilateral pulmonary edema

Unilateral pulmonary edema is relatively uncommon and thus is likely to be confused with other causes of unilateral alveolar and interstitial infiltrates. The specific physiologic mechanisms appear to fall into the same broad categories of the much more commonly recognized bilateral pulmonary edema. These include "cardiogenic" edema with elevation of pulmonary capillary hydrostatic pressure and "noncardiogenic" with decreased plasma oncotic pressure, impaired lymphatic drainage, or disruption of alveolar epithelial-endothelial integrity. We describe a unique case of left, predominantly upper lobe, pulmonary edema secondary to a paravalvular mitral leak complicating mitral valve replacement.

CASE REPORT

A 69-year-old man presented with increasing dyspnea and hemoptysis of 1 week's duration. He had no significant past pleuropulmonary history and had discontinued smoking 30 years prior. His past medical history was significant for hypertension and coronary artery bypass surgery 8 years earlier. Four months prior, he had undergone prosthetic mitral valve replacement (St. Jude) for mitral stenosis via a minimally invasive port-access procedure at another hospital. His course was complicated by arrhythmia requiring placement of a pacemaker on the first postoperative day. Subsequent to surgery he noted no significant improvement in his exercise tolerance. A month later he presented with cough and dyspnea which failed to improve after therapy with oral antibiotics. A chest radiograph at that time revealed a left upper lobe infiltration, and he was admitted for presumed pneumonia. Detailed investigations including bronchoscopy with transbronchial biopsy were unrevealing. He was discharged with a presumptive diagnosis of bronchiolitis obliterans with organizing pneumonia and was receiving systemic corticosteroids. His dyspnea continued to increase, and the steroid dosages were tapered from the initial dose of 60 mg. The dyspnea was worse in the supine and left lateral decubitus position. Failure to respond to a second course of corticosteroids prompted admission to the hospital for further evaluation.

On admission, the patient was dyspneic at rest. His heart rate was 120 beats/min, the respiratory rate was 26 breaths/minute, the BP was 118/80 mm/Hg, and the body temperature was 36.5 [degrees] C. While breathing room air, pulse oximetry was 94%. Examination of the chest revealed well healing surgical scars and crackles in the left upper lung field. There were no rhonchi or evidence of consolidation. The right lung was clear. Examination of the heart revealed a regular rhythm, crisp prosthetic valve sounds, and a soft holosystolic murmur along the left sternal border. There were no gallops. Results of the abdominal examination were normal. The extremities were normal except for 1 + bipedal edema.

The patient had no known drug allergies or significant exposure history. On admission, his medications included enalapril maleate, furosemide, pravastatin, digoxin, Fe[SO.sub.4] tablets, and prednisone. On admission his WBC count was 9.7 X [10.sup.9]/L; hemoglobin, 10.1 g/dL; hematocrit, 30.5%; platelet count, 187 x [10.sup.9]/L; and all chemistry studies were within normal ranges. A chest radiograph (Fig 1) revealed a borderline cardiomegaly, a prominent left pulmonary artery segment, unilateral predominant left upper lobe inhomogeneous "alveolar" infiltrate with perihilar haze and peribronchial cuffing, cephalization, ipsilateral Kerley B lines, and blunting of the left costophrenic sulcus suggesting a small pleural effusion. The CT scan and CT angiogram confirmed the presence of the infiltrate and left effusion and revealed no evidence of thromboembolization or vascular disruption.

[Figure 1 ILLUSTRATION OMITTED]

Transesophageal echocardiography revealed a prosthetic mitral valve dehiscence with severe paravalvular mitral insufficiency. Color flow Doppler imaging (Fig 2) showed the paravalvular regurgitant jet largely directed toward the orifice of the left superior pulmonary vein. Left ventricular function appeared well preserved.

[Figure 2 ILLUSTRATION OMITTED]

DISCUSSION

Unilateral pulmonary edema is an uncommon process that may be frequently confused with other causes of unilateral alveolar and interstitial infiltrates. Although in specific cases the exact physiologic mechanisms may be in doubt, they are believed to fall into the same broad categories of bilateral pulmonary edema with elevation of pulmonary capillary hydrostatic pressure ("cardiogenic"), decreased plasma oncotic pressure or impaired lymphatic drainage or disruption of alveolar epithelial-endothelial integrity ("noncardiogenic").

An additional classification as ipsilateral or contralateral has been suggested by Calenoff et al.[1] Contralateral pulmonary edema occurs on the side opposite a lung with a major perfusion abnormality. It is associated with entities such as unilateral pulmonary thromboembolism, congenital absence/hypoplasia of a pulmonary artery, and Swyer-James syndrome. Ipsilateral pulmonary edema may be seen in the dependent lung with left ventricular dysfunction, acute mitral regurgitation, unilateral veno-occlusive disease, extrinsic pulmonary venous compression (eg, neoplasm), and left-to-right shunt. Noncardiogenic ipsilateral pulmonary edema can be caused by lung reexpansion, aspiration pneumonitis, or surgical or traumatic injury. Contralateral edema can occur with lung resection (lobectomy, pneumonectomy) or unilateral denervation. The relative frequency of these as a cause is unclear but overall heart failure, acute mitral regurgitation, and lung reexpansion appear to be the most commonly reported.[2-11]

Pulmonary edema in a right tipper lobe distribution has been reported with acute mitral regurgitation of the native valve.[2,4,5] Roach et al[2] reported a case with mitral valve regurgitation secondary to a myxomatous flail posterior leaflet and used pulsed Doppler to demonstrate that inflow velocity was greater at the orifice of the right pulmonary vein. In their review of the English-language medical literature, 12 cases of unilateral pulmonary edema were associated with left ventricular failure. In all, the edema was right-sided, and in eight, it was associated with some mitral regurgitation. This was attributed to the direction of regurgitant stream and, perhaps, to superior left lung lymphatic drainage. A variety of unusual mechanisms have been reported including extrinsic compression of a pulmonary vein by aneurysmal dilatation of adjacent aorta or pulmonary artery.[11-13]

As best as can be determined, this is the first case of unilateral pulmonary edema localized to the upper lobes of the left lung reported secondary to paravalvular leak of a prosthetic mitral valve. Subsequent repair of the dehisced valve in the reported patient led to rapid clinical improvement and resolution of the radiologic abnormality. This patient is clinically stable with no evidence of recurrence of the infiltrate 4 months after valve replacement. This case is also instructive in that it emphasizes the need for vigilance for iatrogenic postoperative complications particularly with new surgical techniques. It also demonstrates the utility of a minimally invasive transesophageal echocardiography in establishing the definitive diagnosis and avoiding invasive and unnecessary investigations, as in this case.

References

[1] Calenoff L, Kruglik CG, Woodruff A. Unilateral pulmonary edema. Radiology 1978; 126:19-24

[2] Roach JM, Stajduhar KC, Torrington KG. Right upper lobe pulmonary edema caused by acute mitral regurgitation: diagnosis by transesophageal echocardiography. Chest 1993; 103: 1286-88

[3] Kagele SF, Charan NB. Unilateral pulmonary edema. Chest 1992; 102:1279-80

[4] Gamsu G, Peters DR, Hess D, et al. Isolated right upper lobe pulmonary edema. West J Med 1981; 135:151-54

[5] Gurney JW, Goodman LR. Pulmonary edema localized in the right upper lobe accompanying mitral regurgitation. Radiology 1989; 171:397-99

[6] Poulias GE, Prombonas E. Massive unilateral pulmonary oedema as a rapid re-expansion sequel (the post-expansion syndrome): report of a case and review of the literature. Scand J Thorac Cardiovasc Surg 1974; 8:67-69

[7] Pavlin DJ, Raghu G, Rogers TR, et al. Reexpansion hypotension: a complication of rapid evacuation of prolonged pneumothorax. Chest 1986; 89:70-74

[8] Murphy K, Tomlanovich MC. Unilateral pulmonary edema after drainage of a spontaneous pneumothorax: case report and review of the world literature. J Emerg Med 1983; 1:29-36

[9] Keren A, Tzivoni D, Gottlieb S, et al. Unilateral pulmonary edema complicating acute myocardial infarction. Am J Cardiol 1986; 57:182-83

[10] Snoy FJ, Woodside JR. Unilateral pulmonary edema (down lung syndrome) following urological operation. J Urol 1984; 132:776-77

[11] Cocina EG, Rosas G, Ruiz F, et al. Left ventricular pseudoaneurysm: a cause of unilateral pulmonary edema by compressing the left pulmonary artery. Am Heart J 1996; 132: 1306-07

[12] Takahashi M, Ikeda U, Shimada K, et al. Unilateral pulmonary edema related to pulmonary artery compression resulting from acute dissecting aortic aneurysm. Am Heart J 1993; 126:1225-27

[13] McTigue C, Scurry JP, Silberstein M. Unilateral pulmonary edema associated with pulmonary arterial compression. Australas Radiol 1988; 32:390-93

(*) From the Division of Pulmonary and Critical Care Medicine, Department of Medicine, Long Island Jewish Medical Center, Long Island Campus of the Albert Einstein College of Medicine, New Hyde Park, NY.

Manuscript received October 7, 1997; revision accepted December 19, 1997.

Reprint requests: Leonard J. Rossoff, MD, 270-05 76th Ave, Room C-20, New Hyde Park, NY 11040

COPYRIGHT 1998 American College of Chest Physicians
COPYRIGHT 2000 Gale Group

Return to Swyer syndrome
Home Contact Resources Exchange Links ebay