Aplasia

The testes contain seminiferous tubules, where sperm cells develop. These sperm cells are nourished by Sertoli cells, which line the insides of the tubules. People with germ cell aplasia have Sertoli cells but no sperm cells. This is referred to as azoospermia. People with azoospermia produce no sperm or very few sperm. During this procedure, testicular tissue will be viewed and checked for sperm under the microscope. MicroTESE requires the removal of less testicular tissue than TESE and is considered safer and more effective for retrieving viable sperm. Sperm extracted with microTESE are used for IVF-ICSI or frozen for later use. Coping If you have germ cell aplasia, the procedures needed to achieve pregnancy can be stressful and expensive. If you have a partner, you may both feel a range of emotions that include worry, anxiety, and depression. There is also no guarantee that these procedures will work. For all of those reasons, holding onto hope can be challenging. • Genetic and Rare Diseases Information Center (GARD). • Ghanami Gashti N, Sadighi Gilani MA, Abbasi M. J Assist Reprod Genet. 2021;38(3):559-572. doi:10.1007/s10815-021-02063-x • MedlinePlus. • Krzastek SC, Farhi J, Gray M, Smith RP. Transl Androl Urol. 2020;9(6):2797-2813. • American Society for Reproductive Medicine. When you visit the site, Dotdash Meredith and its partners may store or retrieve information on your browser, mostly in the form of cookies. Cookies collect information about your preferences a...

What is thumb hypoplasia? What is thumb aplasia? Thumb hypoplasia, also known as hypoplastic thumb, is a condition in which a child’s thumb is smaller than normal. Thumb aplasia is a condition in which the thumb is completely absent. Thumb hypoplasia or aplasia often happen in children with How are thumb hypoplasia and thumb aplasia diagnosed? Your baby’s doctor will usually notice thumb hypoplasia or thumb aplasia during your baby’s first exam as a newborn. If the doctor suspects thumb hypoplasia or thumb aplasia, he or she will look for other differences that may be associated with these conditions. X-rays may also help the doctor learn more about the structure of your baby’s thumb. How are thumb hypoplasia and thumb aplasia treated? Treatment depends on the severity of thumb hypoplasia or aplasia. We work with each patient and family to discuss all the options and identify the best one for every patient’s unique needs. Sometimes, the thumb may be smaller than normal but the child is able to function normally, in which case no surgery is needed. If the thumb is weak or can’t move properly, thumb reconstruction surgery may be recommended, in addition to If the thumb hypoplasia is very severe or no thumb is present (thumb aplasia), index finger pollicization surgery may be recommended. In this surgery, a functional thumb is created by moving another finger to the thumb position. Occupational therapy is essential to ensure success after any surgery. Please call

Aplasia cutis congenita is a skin disorder which causes children to be born with a missing patch of skin. Aplasia cutis congenita may occur by itself or as a symptom of other disorders such as Johanson-Blizzard syndrome and Adams-Oliver syndrome. Aplasia cutis congenita may be inherited or occur without any family history of the condition. The disorder affects both males and females of all ethnic backgrounds and occurs in about 1 in 10,000 births. Petri Oeschger / Getty Images Signs and Symptoms A child born with aplasia cutis congenita will be missing a patch of skin, usually on the scalp (70 percent of individuals). Missing patches can also occur on the trunk, arms, or legs. Most children only have one missing patch of skin; however, multiple patches can be missing. The affected area is usually covered with a thin transparent membrane, is well-defined, and is not inflamed. The open area may look like an ulcer or an open wound. Sometimes the missing patch of skin heals before the child is born. The missing patch is usually round but may also be oval, rectangular, or star-shaped. How large the patch is, varies. If aplasia cutis congenita occurs on the scalp, there may be a defect of the skull underneath the missing patch. In this case, there is often distorted hair growth around the patch, known as the hair collar sign. If the bone is affected, there is an increased risk of infections. If the bone is severely compromised, the covering of the brain may be exposed and the ri...

The most common congenital abnormality of the ovary is ovarian dysgenesis or . Ovarian dysgenesis has been described in several domestic animal species and has been associated with various chromosomal abnormalities (monosomy X or Turner syndrome, trisomy XXX, or Klinefelter syndrome XXY). The ovaries are very small and lack follicular activity. Segmental Aplasia of the Paramesonephric Ducts of Animals The paramesonephric ducts are paired embryonic ducts that develop into the anterior vagina, cervix, uterus, and uterine tube. Segmental aplasia of the paramesonephric ducts results in anomalies of those organs. The aplasia (obstruction) may be located in a segment of the uterine tube, uterine horn, cervix, or vagina. Ovarian development is normal. Accumulation of secretions proximal to the obstruction occurs secondarily (hydrosalpinx, hydrometra, mucometra, colpometra). Segmental aplasia of the uterus may involve one horn (resulting in a condition called uterus unicornis), both horns, or only part of one horn (which may result in cystic dilatation of the uterine horn anterior to the area of dilatation). Uterus unicornis has been described in several domestic animal species. The condition seems to be relatively common in camelids. These females can become pregnant and carry the pregnancy to term. Cervical aplasia has been described in a few cases but is not as common. True persistence of the hymen or imperforation of the hymen is the most commonly reported paramesonephric duct...

Unfortunately, immunosuppressives drugs can have side effects. An important one is that they can increase your risk of certain infections. Your healthcare provider will help monitor you and help you manage these risks. People who had PRCA from certain specific causes may need some other therapies as well. Some examples are: Special Considerations for Congenital PRCA Children who have congenital PRCA may also need additional therapies, such as During this therapy, they receive healthy stem cells from a donor. This would allow them to make healthy blood cells of their own in the future. This treatment, if successful, can completely cure the disease. A Word From Verywell It is frustrating and scary to learn that you or your child has a condition like PRCA. Sometimes, you’ll have to be thinking about treating other underlying problems as well. But fortunately, most people are able to successfully manage their PRCA. Work closely with your medical team to get all your questions answered. That depends somewhat on the underlying cause. In someone with congenital PRCA, symptoms are permanent, unless they have a successful stem cell transplant. Symptoms are also likely to be permanent in someone with primary acquired PRCA, or someone with PRCA from another autoimmune condition. However, if you have an underlying condition that can be cured, your PRCA may go away with treatment. For example, if your body gets rid of an underlying infection causing PRCA, you may not have any more trou...

Thumb hypoplasia and aplasia are two versions of a In the case of thumb hypoplasia, your baby is born with a thumb that’s smaller and What Is Hypoplasia? Hypoplasia is caused by a problem with the way that your baby’s hand develops. Under normal circumstances, your baby’s hand starts out like a fleshy mitten without any distinguishing characteristics. Then, the individual fingers and thumbs take shape. This involves a complex interweaving of a variety of tissues including: • Bones . These provide structural support throughout your baby’s hands and body. • Muscles. These tissues give your baby’s hand strength. • Ligaments . These stretchy tissues connect bones. They provide a lot of support, particularly at the joints. • Tendons . This type of tissue connects your bones to your muscles, adding further support to body parts like hands. In cases of hypoplasia, some or many parts of this normal developmental process are disturbed. Thumb hypoplasia can include mild and severe developmental abnormalities. Different thumb hypoplasia types include hands with: • Small thumbs. The structures within your child’s thumb are shaped normally, but the thumb is smaller and weaker than it should be. • Abnormal musculature. The muscles in your child’s hand don’t grow or form connections where they should within your child’s thumb. The bones tend to be smaller than normal, and the middle thumb joint is unstable. It can wiggle when your child tries to apply pressure with this digit. There will...

Aplasia cutis congenita presents as a well-demarcated, noninflammatory, circular or oval blister or eroded region, usually at the scalp vertex just lateral to the midline, although other areas of the body also may be involved. Although aplasia cutis congenita often appears as a solitary lesion (70 percent), the condition may present as multiple lesions, typically 1 to 2 cm in diameter. Most patients with aplasia cutis congenita have no other abnormalities, although the condition may be associated with congenital malformations involving the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Larger lesions are more likely to be associated with other defects. Lesions with findings such as vascular flushing, tethering (which may be a sign of a dural attachment), or abnormal surrounding hair may signal further abnormalities and warrant evaluation. , There is no consensus concerning the treatment of aplasia cutis congenita. Management depends on the size of the defect and the physical condition of the child. Complications can include meningitis, hemorrhage, and local infection; however, small ulcers typically heal with formation of a hairless scar over several weeks, and bony defects tend to close spontaneously within the first year. A conservative approach often is adopted because of the self-limited course. Langerhans cell histiocytosis (formerly histiocytosis X) is a proliferative disorder of Langerhans cells that can occur in many organ systems. Th...

Congenital anomalies of the posterior arch of the atlas (C1) are relatively common anomalies. They may range from partial defects presenting as clefts to complete absence of the posterior arch (aplasia). These anomalies are classified according to Currarino (see below). It should not be confused with Article: • • • • • • • • Images: • Epidemiology The reported incidence in one larger series from 1930 was 4% 3. Estimates from a recent extensive review range from 0.7-3% 7. Clinical presentation Clinical presentation is highly variable. While most are asymptomatic and present as an incidental finding on imaging studies performed after trauma or for other reasons, severe symptoms such as intermittent tetraparesis after minor cervical trauma have been described in the literature 7,8. Not surprisingly, higher morphological groups (especially C and D, owing to a posterior tubercle) tend to be symptomatic, either post-trauma or intermittent to chronic. For example, symptoms due to impingement of the cord by a posterior tubercle during extension is well described in the literature 2,7. However, post-traumatic symptoms have been described in the milder forms 7. Classification Congenital anomalies of the posterior atlas arch can be classified according to a system proposed by Currarino et al. in 1994 consisting of a combination of morphology and clinical presentation 1. At the time of writing (August 2016) the Currarino classification remains the most widely used: • morphological typ...