Growth hormone deficiency children (DWARFISM)

Panhypopituitarism; Pituitary dwarfism; Recombinant human GH (rhGH); Acquired growth hormone deficiency; Congenital growth hormone deficiency; Somatropin Growth hormone deficiency refers to abnormally short height in childhood due to the lack of growth hormone. See also: Short stature Causes, incidence, and risk factors Growth hormone is produced in the pituitary gland, which is located at the base of the brain. Different hormones made in the brain tell the pituitary gland how much growth hormone is needed. Growth hormone enters the blood and stimulates the liver to produce a hormone called insulin-like growth factor (IGF-1), which plays a key role in childhood growth. Abnormally short height in childhood (called short stature) may occur if not enough growth hormone is produced. Most of the time, no single clear cause of growth hormone deficiency is found. Growth hormone deficiency may be present at birth (congenital) It may also develop after birth, as the result of a brain injury, tumor, or medical condition Children with physical defects of the face and skull, such as cleft lip or cleft palate, are more likely to have decreased growth hormone levels. Growth hormone deficiency is usually not passed from parent to child. Although it is uncommon, growth hormone deficiency may also be diagnosed in adults. Possible causes include: Brain radiation treatments for cancer Hormonal problems involving the pituitary gland or hypothalamus Severe head injury Symptoms Children with growth hormone deficiency have a slow or flat rate of growth, usually less than 2 inches per year. The slow growth may not appear until a child is 2 or 3 years old. The child will be much shorter than most or all children of the same age and gender.

Children with growth hormone deficiency still have normal body proportions, as well as normal intelligence. However, their face often appears younger than children of the same age. They may also have a chubby body build. In older children, puberty may come late or may not come at all. Signs and tests A growth chart is used to compare a child's current height, and how fast he or she is growing, to other children of the same age and gender. A physical examination including weight, height, and body proportions will show signs of slowed growth rate. The child will not follow the normal growth curves. Several blood tests are used to help diagnose growth hormone deficiency and its causes: GNRH-arginine test Growth hormone levels in the blood Growth hormone stimulation test Insulin tolerance test (ITT, often used to diagnose adults) Tests to measure levels of other hormones made by the pituitary gland Imaging or x-ray tests may include the following: Dual energy x-ray absorptiometry (DEXA) scans can also determine bone age. Hand x-ray (usually the left hand) can determine bone age. Normally, the size and shape of bones change as a person grows. These changes can be seen on an x-ray and usually follow a pattern as a child grows older. Measuring growth hormone and binding protein levels (IGF-I and IGFBP-3) will show whether the growth problem is caused by a problem with the pituitary gland. MRI of the head can show the hypothalamus and pituitary glands. Treatment A child's short stature will often affect self-esteem. Providing emotional support is an important part of treatment. Children may be teased by classmates and playmates. Family, friends, and teachers should emphasize the child's other skills and strengths. Treatment involves growth hormone injections given at home. Patients may receive growth hormone several times a week or once a day.

Many children gain 4 or more inches over the first year, and 3 or more inches during the next 2 years. Then the growth rate slowly decreases. Serious side effects of growth hormone therapy are rare. The most common side effects are: Fluid retention Muscle and joint aches Expectations (prognosis) The earlier the condition is treated, the better the chance that a child will grow to be a near-normal adult height. Growth hormone replacement therapy does not work for all children. Complications If left untreated, growth hormone deficiency will lead to short stature and delayed puberty. Growth hormone deficiency may occur with deficiencies of other hormones, including the following: Adrenocorticotrophic hormone or ACTH (controls the adrenal gland and its production of cortisol, DHEA, and other hormones) Gonadotropins (control production of male and female sex hormones) Thyrotropins (control production of thyroid hormones) Vasopressin (controls water balance in the body) Calling your health care provider Call your health care provider if your child seems abnormally short for his or her age. Prevention Most cases are not preventable. Review your child's growth chart with your physician after each check-up. If your child's growth rate is dropping or your child's projected adult height is much shorter than an average height of both parents, evaluation by a specialist is recommended. Classification Dwarfism is a medical disorder with the sole requirement being an adult height under 147 cm (4 ft 10 in) and it is almost always classified as to the underlying condition that is the cause for the short stature. Dwarfism is not necessarily caused by disease or a genetic disorder; it can simply be a naturally occurring consequence of a person's genetics. If dwarfism is caused by a medical disorder, the person is referred to by the underlying

diagnosed disorder. Disorders causing dwarfism are often classified by proportionality. Disproportionate dwarfism describes disorders that cause unusual proportions of the body parts, while proportionate dwarfism results in a generally uniform stunting of the body. Disorders that cause dwarfism may be classified according to one of hundreds of names, which are usually permutations of the following roots: location rhizomelic = root, e.g., bones of the upper arm or thigh mesomelic = middle, e.g., bones of the forearm or lower leg acromelic = end, e.g., bones of hands and feet. micromelic = entire limbs are shortened source chondro = of cartilage osteo = of bone spondylo = of the vertebrae plasia = form trophy = growth Examples include achondroplasia, osseous dysplasia, chondrodystrophy, and osteochondrodystrophy

KRETINISME
1. DEFINISI Hipotiroid merupakan suatu keadaan klinik yang ditandai dengan menurunnya sekresi dari salah satu atau kedua hormontiroid yang terjadi akibat berbagai kelainan struktur dan fungsional. Keadaan ini merupakan suatu gangguan kelenjar endokrin yang biasanya terjadi sejak janin maupun pada masa kanakkanak. Salah satu akibat dari kurangnya hormone tiroid dalam tubuh dapat mengakibatkan pertumbuhan yang lambat dengan perawakan pendek (cebol) atau disebut kretinisme. 2. a) KLASIFIKASI DAN ETIOLOGI Bawaan (kretinisme) 1) Agenesis atau disgenesis kelenjar tiroidea. 2) Kelainan hormogenesis :

a. Kelainan bawaan enzim (inborn error) b. Defisiensi iodium (kreatinisme endemic) c. Pemakaian obat-obatan anti tiroid oleh ibu hamil (maternal) b) Didapat : Biasanya disebut hipotiroidisme juvenilis. Pada keadaan ini terjadi atrofi kelenjar yang sebelumnya normal. Penyebabnya ialah : 1) Idiopatik (autoimunisasi) 2) Tiroidektomi 3) Tiroidit is (Hashimoto, dll) 4) Pemakaian obat anti tiroid 5) Kelainan hipofisis 6) Defisiensi spesifik TSH Penyebab paling sering dari kekurangan hormone tiroid adalah akibat kurangyna bahan baku pembuat. Bahan baku terpenting untuk produksi hormone tiroid adalah yodium. Kretinisme dapat terjadi bila kekurangan berat unsur yodium terjadi selama masa kehamilan hingga tiga tahun pertama kehidupan bayi.hormon tiroid bekerja sebagai penentu utama laju metabolic tubuh keseluruhan, pertumbuhan dan perkembangan tubuh serta fungsi saraf. Sebenarnya gangguan pertumbuhan timbul karena kadar tiroid yang rendah mempengaruhi produksi hormon pertumbuhan, hanya saja ditambah gangguan lain terutama pada susunan saraf pusat dan saraf perifer. Bila kekurangan hormone tiroid terjadi sejak janin, maka gejalanya adalah retardasi mental (IQ rendah) disertai salah satu atau kedua gejala dibawah ini : 1) gangguan pendengaran (kedua telinga dan nada tinggi) dan gangguan wicara, gangguan cara berjalan (seperti orang kelimpungan) ,mata juling, cara berjalan yang khas, kurangnya massa tulang, terlambatnya perkembangan masa pubertas dll. 2) cebol dan hipotiroidisme 3. PATOFISIOLOGI Kecepatan pertumbuhan tidak berlangsung secara kontinyu selama masa pertumbuhan, demikian juga faktor-faktor yang mendorong pertumbuhan. Pertumbuhan janin, tampaknya sebagian besar tidak bergantung pada control hormon, ukuran saat lahir terutama ditentukan oleh faktor genetik dan lingkungan. Faktor hormon mulai berperan penting dalam mengatur

pertumbuhan setelah lahir. Faktor genetik dan nutrisi juga sangat mempengaruhi pertumbuhan pada masa ini. Kelenjar tiroid yang bekerja dibawah pengaruh kelenjar hipofisis, tempat diproduksinya hormon tireotropik. Hormone ini mengatur produksi hormone tiroid, yaitu tiroksin (T4) dan triiodo-tironin (T3). Kedua hormone tersebut dibentuk dari monoiodo-tirosin dan diiodo-tirosin. Untuk itu diperlukan dalam proses metabolic didalam badan, terutama dalam pemakaian oksigen. Selain itu juga merangsang sintesis protein dan mempengaruhi metabolisme karbohidrat, lemak dan vitamin. Hormon ini juga diperlukan untuk mengolah karoten menjadi vitamin A. Hormone tiroid esensial juga sangat penting untuk pertumbuhan tetapi ia sendiri tidak secara langsung bertanggung jawab menimbulkan efek hormone pertumbuhan. Hormone ini berperan permisif dalam mendorong pertumbuhan tulang, efek hormone pertumbuhna akan maksimum hanya apabila terdapat hormone tiroid dalam jumlah yang adekuat. Akibatnya, pada anak hipotiroid pertumbuhan akan terganggu, tetapi hipersekresi hormone tiroid tidak menyebabkan pertumbuhan berlebihan. Tiroksin mengandung banyak iodium. Kekurangan iodium dalam makanan dalam waktu panjang mengakibatkan pembesaran kelenjar gondok karena kelenjar ini harus bekerja keras untuk membentuk tiroksin. Kekurangan tiroksin menurunkan kecepatan metabolisme sehingga pertumbuhan lambat dan kecerdasan menurun. Bila ini terjadi pada anak-anak mengakibatkan kretinisme. 4. MANIFESTASI KLINIS Hipotiroidisme merupakan suatu keadaan klinik ditandai dengan : 1) Gangguan perkembangan fisik dan mental 2) Sukar berkonsentrasi 3) Letargi 4) Anoreksia 5) Kulit kasar, kering dan pucat 6) Rambut kepala kasar dan rapuh 7) Konstipasi Suara serak atau parau 9) Wajah lembam 10) Sensitif terhadap dingin

11) Kelainan di rongga mulut erupsi gigi desidui, gigi permanen terlambat, terjadinya open bite, cenderung mengalami karies dan penyakit periodontal yang lebih cepat. 5. DIAGNOSIS Diagnosis dibuat berdasarkan gejala klinis, pemeriksaan laboratorium, pemeriksaan radiologi dan percobaan dengan pulvus tiroid. Kalau diagnosis meragukan maka dapat dicoba dengan jalan memberikan pulvus tiroid. Dalam kasus hipotiroid akan terlihat suatu hasil pengobatan. 6. 1) 2) 3) 4) 5) DIAGNOSIS BANDING Mongolisme Hipopituitarisme Akondroplasia Osteogenesis imperfekta Penyakit penimbunan glikogen

7. PENATALAKSANAAN 1) Terapi yang paling baik untuk kretinisme adalah pencegahan. Pencegahan dapat dilakukan dengan : a) Pemberian makanan yang adekuat dengan cukup kalori dan protein b) Mengkonsumsi makanan yang diberi garam beryodium atau pemberian suplemen yodium untuk merangsang produksi hormon. c) Kecukupan kebutuhan vitamin dan mineral 2) Pemberian obat khusus, yaitu hormon tiroid (tiroid desikatus). Diberikan mulai dari dosis kecil, lalu dinaikan sampai kita mendekati dosis toksik (gejala hipertiroidisme), lalu diturunkan lagi. Penilaian dosis yang tepat ialah dengan menilai gejala klinis dan hasil laboratorium. 8. PROGNOSIS Makin muda dimulai pemberian hormon tiroid, maka makin baik prognosisnya. Kalau terapi dimulai sesudah umur 1 tahun, biasanya tidak akan tercapai IQ yang normal. Pertumbuhan badan dapat baik. Pada kretinisme didapat dengan pengobatan yang baik, prognosisnya akan lebih baik