Van Wyk and Grumbach syndrome

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Van Wyk and Grumbach syndrome
Other namesVan Wyk-Grumbach syndrome (VWGS)
Specialty Endocrine

Van Wyk and Grumbach syndrome is a medical condition defined by a combination of hypothyroidism, precocious puberty (with delayed bone age and lack of pubic hair), and ovarian cysts in pre- and post-pubertal girls or macroorchidism (unusually large testes) in boys. [1]

Contents

Presentation

Symptoms are ascites, pleural and pericardial effusions, elevated ovarian tumour markers, enlarged pituitary gland and elevated prolactin and alpha-fetoprotein levels.[ citation needed ]

Mechanism

The presumed pathogenesis is that primary hypothyroidism causes enlargement and hyperstimulation of the pituitary gland which in turn cause ovarian hyperstimulation, ovarian cysts and precocious puberty.[ citation needed ]

Diagnosis

Diagnosis is made by imaging/sonography and thyroid hormone tests.[ citation needed ]

Treatment

The syndrome usually responds well to thyroid hormone replacement with complete resolution of symptoms. [1]

History

The syndrome was described in 1960 by Van Wyk and Melvin M. Grumbach. [2] [3] [4]

Related Research Articles

<span class="mw-page-title-main">Hypothyroidism</span> Endocrine disease

Hypothyroidism is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormones. It can cause a number of symptoms, such as poor ability to tolerate cold, a feeling of tiredness, constipation, slow heart rate, depression, and weight gain. Occasionally there may be swelling of the front part of the neck due to goitre. Untreated cases of hypothyroidism during pregnancy can lead to delays in growth and intellectual development in the baby or congenital iodine deficiency syndrome.

Amenorrhea is the absence of a menstrual period in a female who has reached reproductive age. Physiological states of amenorrhoea are seen, most commonly, during pregnancy and lactation (breastfeeding). Outside the reproductive years, there is absence of menses during childhood and after menopause.

Thyroid-stimulating hormone (also known as thyrotropin, thyrotropic hormone, or abbreviated TSH) is a pituitary hormone that stimulates the thyroid gland to produce thyroxine (T4), and then triiodothyronine (T3) which stimulates the metabolism of almost every tissue in the body. It is a glycoprotein hormone produced by thyrotrope cells in the anterior pituitary gland, which regulates the endocrine function of the thyroid.

<span class="mw-page-title-main">Ovarian cyst</span> Fluid-filled sac in the ovary

An ovarian cyst is a fluid-filled sac within the ovary. Often they cause no symptoms. Occasionally they may produce bloating, lower abdominal pain, or lower back pain. The majority of cysts are harmless. If the cyst either breaks open or causes twisting of the ovary, it may cause severe pain. This may result in vomiting or feeling faint, and even cause head aches.

In medicine, precocious puberty is puberty occurring at an unusually early age. In most cases, the process is normal in every aspect except the unusually early age and simply represents a variation of normal development. In a minority of children with precocious puberty, the early development is triggered by a disease such as a tumor or injury of the brain. Even when there is no disease, unusually early puberty can have adverse effects on social behavior and psychological development, can reduce adult height potential, and may shift some lifelong health risks. Central precocious puberty can be treated by suppressing the pituitary hormones that induce sex steroid production. The opposite condition is delayed puberty.

Delayed puberty is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty. The person may have no physical or hormonal signs that puberty has begun. In the United States, girls are considered to have delayed puberty if they lack breast development by age 13 or have not started menstruating by age 15. Boys are considered to have delayed puberty if they lack enlargement of the testicles by age 14. Delayed puberty affects about 2% of adolescents.

Anovulation is when the ovaries do not release an oocyte during a menstrual cycle. Therefore, ovulation does not take place. However, a woman who does not ovulate at each menstrual cycle is not necessarily going through menopause. Chronic anovulation is a common cause of infertility.

Pubarche refers to the first appearance of pubic hair at puberty and also it marks the beginning of puberty. It is one of the physical changes of puberty and can occur independently of complete puberty. The early stage of sexual maturation, also known as adrenarche, is marked by characteristics including the development of pubic hair, axillary hair, adult apocrine body odor, acne, and increased oiliness of hair and skin. The Encyclopedia of Child and Adolescent Health corresponds SMR2 with pubarche, defining it as the development of pubic hair that occurs at a mean age of 11.6 years in females and 12.6 years in males. It further describes that pubarche's physical manifestation is vellus hair over the labia or the base of the penis. See Table 1 for the entirety of the sexual maturity rating description.

<span class="mw-page-title-main">Endocrine gland</span> Glands of the endocrine system that secrete hormones to blood

Endocrine glands are ductless glands of the endocrine system that secrete their products, hormones, directly into the blood. The major glands of the endocrine system include the pineal gland, pituitary gland, pancreas, ovaries, testicles, thyroid gland, parathyroid gland, hypothalamus and adrenal glands. The hypothalamus and pituitary glands are neuroendocrine organs.

<span class="mw-page-title-main">Hyperandrogenism</span> Medical condition

Hyperandrogenism is a medical condition characterized by high levels of androgens. It is more common in women than men. Symptoms of hyperandrogenism may include acne, seborrhea, hair loss on the scalp, increased body or facial hair, and infrequent or absent menstruation. Complications may include high blood cholesterol and diabetes. It occurs in approximately 5% of women of reproductive age.

Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. The condition is also a rare sign of the McCune-Albright syndrome. The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.

<span class="mw-page-title-main">Thyroid disease</span> Medical condition

Thyroid disease is a medical condition that affects the function of the thyroid gland. The thyroid gland is located at the front of the neck and produces thyroid hormones that travel through the blood to help regulate many other organs, meaning that it is an endocrine organ. These hormones normally act in the body to regulate energy use, infant development, and childhood development.

Thyroid function tests (TFTs) is a collective term for blood tests used to check the function of the thyroid. TFTs may be requested if a patient is thought to suffer from hyperthyroidism or hypothyroidism, or to monitor the effectiveness of either thyroid-suppression or hormone replacement therapy. It is also requested routinely in conditions linked to thyroid disease, such as atrial fibrillation and anxiety disorder.

The thyroid hormone receptor (TR) is a type of nuclear receptor that is activated by binding thyroid hormone. TRs act as transcription factors, ultimately affecting the regulation of gene transcription and translation. These receptors also have non-genomic effects that lead to second messenger activation, and corresponding cellular response.

<span class="mw-page-title-main">Endocrine disease</span> Medical condition

Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology.

<span class="mw-page-title-main">Hypothalamic–pituitary–thyroid axis</span> Part of the neuroendocrine system

The hypothalamic–pituitary–thyroid axis is part of the neuroendocrine system responsible for the regulation of metabolism and also responds to stress.

Myxedema coma is an extreme or decompensated form of hypothyroidism and while uncommon, is potentially lethal. A person may have laboratory values identical to a "normal" hypothyroid state, but a stressful event precipitates the myxedema coma state, usually in the elderly. Primary symptoms of myxedema coma are altered mental status and low body temperature. Low blood sugar, low blood pressure, hyponatremia, hypercapnia, hypoxia, slowed heart rate, and hypoventilation may also occur. Myxedema, although included in the name, is not necessarily seen in myxedema coma. Coma is also not necessarily seen in myxedema coma, as patients may be obtunded without being comatose.

Hypothalamic disease is a disorder presenting primarily in the hypothalamus, which may be caused by damage resulting from malnutrition, including anorexia and bulimia eating disorders, genetic disorders, radiation, surgery, head trauma, lesion, tumour or other physical injury to the hypothalamus. The hypothalamus is the control center for several endocrine functions. Endocrine systems controlled by the hypothalamus are regulated by antidiuretic hormone (ADH), corticotropin-releasing hormone, gonadotropin-releasing hormone, growth hormone-releasing hormone, oxytocin, all of which are secreted by the hypothalamus. Damage to the hypothalamus may impact any of these hormones and the related endocrine systems. Many of these hypothalamic hormones act on the pituitary gland. Hypothalamic disease therefore affects the functioning of the pituitary and the target organs controlled by the pituitary, including the adrenal glands, ovaries and testes, and the thyroid gland.

Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. As compensation and the lack of negative feedback, gonadotropin levels are elevated. Individuals with HH have an intact and functioning hypothalamus and pituitary glands so they are still able to produce FSH and LH. HH may present as either congenital or acquired, but the majority of cases are of the former nature. HH can be treated with hormone replacement therapy.

<span class="mw-page-title-main">Premature thelarche</span> Medical condition

Premature thelarche (PT) is a medical condition, characterised by isolated breast development in female infants. It occurs in females younger than 8 years, with the highest occurrence before the age of 2. PT is rare, occurring in 2.2-4.7% of females aged 0 to 2 years old. The exact cause of the condition is still unknown, but it has been linked to a variety of genetic, dietary and physiological factors.

References

  1. 1 2 Rastogi, Ashu; Bhadada, Sanjay Kumar; Bhansali, Anil (July 2011). "An unusual presentation of a usual disorder: Van Wyk-Grumbach syndrome". Indian Journal of Endocrinology and Metabolism. 15 (Suppl 2): S141–143. doi: 10.4103/2230-8210.83356 . ISSN   2230-9500. PMC   3169870 . PMID   21966653.
  2. Browne, L. P.; Boswell, H. B.; Crotty, E. J.; O'Hara, S. M.; Birkemeier, K. L.; Guillerman, R. P. (2008). "Van Wyk and Grumbach syndrome revisited: Imaging and clinical findings in pre- and postpubertal girls". Pediatric Radiology. 38 (5): 538–42. doi:10.1007/s00247-008-0777-1. PMID   18283448. S2CID   10001906.
  3. Patni, N; Cervantes, L. F.; Diaz, A (2012). "Elevated alpha-fetoprotein levels in Van Wyk-Grumbach syndrome: A case report and review of literature". Journal of Pediatric Endocrinology & Metabolism. 25 (7–8): 761–7. doi:10.1515/jpem-2012-0112. PMID   23155707. S2CID   70369330.
  4. Hunold, A; Alzen, G; Wudy, S. A.; Bluetters-Sawatzki, R; Landmann, E; Reiter, A; Wagner, H. J. (2009). "Ovarian tumor in a 12-year-old female with severe hypothyroidism: A case of Van Wyk and Grumbach syndrome". Pediatric Blood & Cancer. 52 (5): 677–9. doi:10.1002/pbc.21920. PMID   19127572. S2CID   21495694.