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Просмотр полной версии : Your help is very necessary to me!! Very complex or difficult case!



Myasnikovich Julia
28.02.2005, 14:26
Hello, the dear endocrinologist!
You now unique my hope, I simply beg you to help or assist me!!! To me 17 years, live I in a Vladivostok, good doctors of endocrinologists at us are not present. At me complex or difficult enough diagnosis. Now the endocrinologist who observes me, is not assured or confident of the diagnosis exposed to me 4 years ago. And many doctors endocrinologists cannot tell or say, what at me now the diagnosis. To this letter I prelagaju the extract written only recently. Whether tell or say, please, you agree with the diagnosis exposed to me? Or you are inclined to other diagnosis? In general I have found very many data in the Internet and I assume, that on current I illnesses or diseases and to attributes at me can be the diagnosis: Illness or Disease or an Icenco-Cushing syndrome! I have drawn such conclusion on the basis of, that at me to disturbances carbohydrate, fatty, exchanges, an appreciable obesity III, with a primary adiposity on the face, a stomach or belly, breeches. It is especially appreciable on a background thin distrofichnyh extremities, on a skin beder, a stomach or belly, and sometimes in the field of a thorax atrophic strips of -violet color, the lunar face are formed. Abaissement of hair on a head is marked or celebrated. At me frustration of a menstrual cycle with a forwardness of an amenorrhea. The raised or increased hairiness on the face as there is a hirsutism, strii. I am inclined to infections in communication or connection with depression of resistibility of an organism, to frequent overworks, I feel the general or common delicacy. Frequent pains in a backbone are marked or celebrated, the arterial hypertensia and disturbance of tolerance to a glucose is observed.
Me your opinion in occasion of the spent analyses (it can is necessary still any analyses dozdat) interests, what references vymozhete to give on the conclusion of doctors from an extract.
To me put fatty gipotoz a liver. I was at the doctor infektsionista, and to me have told or said, that the liver should be treated a diet and medikamentozno, but the attending physician (from an extract considers or counts, that the liver can be cured only by means of a diet) that is absolutely opposite to opinion of the doctor infektsionista. What to do or make in this case? How to treat? And than to treat?
You will find some offers in an extract absolutely not not corresponding or meeting the validity. In an extract it will be written, that treatment GR has not been counter-indicative. However, it not so. In treatment by Prednisolonum to me it has been given up, from - that the doctor did not know how to calculate a dose of a medicine and more this doctor (hospital ENTS of Russian Academy of Medical Science) was afraid, that Prednisolonum will give a side effect on my organism (as to me have told or said instead of an opportunity podrasti, the strong obesity can go).
It would be desirable to learn or find out, how with you it is possible to communicate?
In advance I thank for consultation, I very much require her.
Yours faithfully Julia.

Patient Myasnikovich Julia Andreevna, 17 years, was on inspection and treatment in endocrinologic or endocrinology unit KKB 2 from 26.01.05 till
Has acted or arrived with complaints to superfluous mass of a body with fast increases, constant feeling of famine, thirst, dryness in a mouth, the speeded up emiction, superfluous body height of hair on a body, absence of a menses, extensions on a body, pains in a backbone, low body height.
From the anamnesis of disease - was born with low parameters of body height and masses (2500x47) at full-term pregnancy. The growth inhibition was marked or celebrated since a birth; rates of body height in dynamics or changes: in 1 year - 64 sm (SDS =-3,8), in 3 years of 86 sm (SDS =-1,8), in 9 years - 116 sm, in 10 years - 117 sm, in 11 years - 122 sm, in 12 years - 123 sm, in 14 years - 124 sm (SDS =-5,8). By the endocrinologist for the first time it is examined in 7 mes: DS an oligotrophy of II item Since 1,5 years - superfluous increases in mass of a body. In 3 years it is repeatedly advised by the endocrinologist, the delay of physical development, excess of mass of 10 % is diagnosed, the sexual chromatin - 17 % is investigated or researched. In 8,5 years - isolated pubarhe, the growth inhibition and a degree of an obesity, from 9 years - telarhe progressed. With the given complaints in 9 years (1997) it is surveyed in somatic unit KKB Vladivostok, by results of inspection the osteal age corresponds or meets passport, a hormonal structure (FSG, LG, Prolactinum, TTG, 4, TZ) within the limits of age norm or rate, US of an abdominal cavity and adrenals - without a pathology. The diagnosis is exposed: Silver-Russell's Syndrome? (olbrajta-?aNoa?) . Then within 2 years at the endocrinologist it was not observed. In dynamics or changes rates of body height remained low (3-4 sm/years), were marked or celebrated sharp increases in mass, there was a redistribution of a hypodermic-fatty on the cushingoid type, plural strii. At repeated inspection in 11 years in endocrine unit the-osteal age corresponds or meets to 15,5-16 years, excess of mass of 45 %, body height corresponds or meets to 8-9 years, at inspection (KT adrenals) the tumour of the right adrenal it it is not excluded. With the purpose of specification of the diagnosis it is directed in ENTS Russian Academy of Medical Science (1999) where at inspection the tumour of adrenals (according to KT, assays with Dexamethazonum) is excluded; partial ?Ou-DEFICIENCY (assay with klofelinrm, the maximal emission 9,2 ng/ml) is revealed; the genetic syndromal pathology, a karyotype 46 is excluded, XX and nonclassical form VDKN by results of assay with Synacthenum (initially - 17- 5,9 ???y/l, a hydrocortisone 87 ???y/l, 12 hours - 17- 29,5 ???y/l, a hydrocortisone 2363 ???y/l) is diagnosed. It is recommended: 8, Prednisolonum, treatment GR is not counter-indicative. Treatment by glucocorticoids and GR did not receive. In 12 years (2000) it is surveyed in TSKB 3 Ministries of Railways of Moscow - the osteal age corresponded or met to 18 years, a hydrocortisone 8.00 - 1100 ???y/l, 22.00 - 473 ???y/l, MRT a brain and adrenals without a pathology; the diagnosis former, observation in dynamics or changes, the control of a level of a hydrocortisone of a blood is recommended. It is repeatedly surveyed in TSKB 3 Ministries of Railways in 14 years (2001), the rasping delay of physical development (SDS body height =-5,8), an obesity on cushingoid type (weight of 38 kg), the arterial hypertensia, plural strii was clinically saved. At inspection a hydrocortisone of a blood 8.00 - 524,6, 21.00 - 37,3 ???y/l; assay with Dexamethazonum a hydrocortisone initially 473,0, after assay 7,04 ???y/l; assay with Synacthenum initially - 17- 5,64 ???y/l, a hydrocortisone 582,7 ???y/l, 9 hours - 17- 41,17 ???y/l, a hydrocortisone 1475 ???y/l, 24 hours - 17- 27,4 ???y/l, a hydrocortisone 1465 ???y/l; KT adrenals - a picture of a bilateral adrenal struma; TTG, 4, LG, FSG, PG - norm or rate; disturbance of tolerance to carbohydrates; US of a small basin without a pathology. The patient is written out with diagnosis VDKN, a nonclassical variant. Partial deficiency of a hormone of body height.
It is recommended 8, in view of the closed zones of body height treatment GR is not shown. In 16 years (VII-2003) was on inspection before VTEK in KKB 2 of Vladivostok; the secondary amenorrhea and an easy or a light;a mild hirsutism has clinically joined; the functional hypercorticoidism, a bilateral adrenal struma according to US, US of genitals or genitalias - without a pathology, 17- 1,068 ng/ml, Testosteron-Depotum 4,8 ng/ml, LG, FSG, TTG, Prolactinum, Oestradiolum - within the limits of norm or rate were saved disturbance of tolerance to carbohydrates. In dynamics or changes of the patient marks or celebrates constantly raised or increased appetite, increases in mass of a body, increase of a hirsutism, absence of a menses during 7 mes, nearby 3 mes back-occurrence of thirst, dryness in a mouth, the speeded up emiction. With the purpose of inspection, specification of further tactics of conducting it is hospitalized in unit.
From the anamnesis of a life - from I the pregnancy proceeded with og- in second half, ORVI in 30 and 34 ned. Labors 1, urgent, a chronic fetal hypoxia of a fetus, a flat bag of waters, a perineotomy. The full-term girl 2500 h 47 sm, an estimation on Apgar 8 was born. On 1 year a delay of physical development - in 1 year mass 6400 (+ 3900), length of 64 sm (+ 17 sm), psychological development - on age. From the transferred or carried diseases - ORVI, since 14 years - a bronchial asthma.
The gynecologic anamnesis - Me since 13 years, regular within the first 6 months, then as an opsomenorrhea, within last year mensis unitary in VI-VII-04 within 7 days.
Objectively - a status satisfactory. Physical development: MT = 44,5 kg; =124 sm; =28,9; excess of mass of 79 %. A body build hypersthenic, an obesity on cushingoid type, skoshennost breeches. A high level stigmatizatsii: -facial dismorfii, a dystrophia of a teeth and fingernails or nails, a hypoplasia of brushes, stop. A skin acyanotic, warm, dry, with a mottled drawing; a nevus pigmentosus of the wrong form of color " coffee with milk " on the stomach or belly, plural thin, pink and nacreous strii on a stomach or belly, a breast, femurs, a hyperkeratosis of elbows, a black acanthosis in axillary hollows. A pilosis on man's type, girsutnoe number - 18. The Thyroid gland - 0 degrees on the CART. Mucous pink, pure or clean, wet. In lungs respiration vesicular, rhonchuses are not present, CHD 18 in minutes Cardiac sounds are muffled, rhythmical, the CARDIAC CONTRACTIONS RATE 94 in minutes, a BP 130/90 mm Hg the Stomach or Belly is increased in sizes due to a n??-FATTY TISSUE, soft, painless. Secondary sexual attributes: PS Mas Me abs with VI-04. External genitals are generated correctly, on female type.
Results of researches:
1. The Clinical analysis of a blood from 08.02.05 L-9,9 G/l, N - 146 g/l, an ESR - 8 mm/?, e 1, p.b. 1, with/I 41, l 52, m of 5 %.
2. EDS bloods from 19.01.05 - otritsat.
3. The Biochemical analysis of a blood from 27.02.05 - a bilirubin 17,9 ???y/l, ALT 193 Nn/L, ACT 119 Nn/L, timolovaja 2,0 units, a cholesterin 4,6 ???y/l, triglycerides 1,25 ???y/l, urea 3,9 ???y/l, a creatinine 50 ???y/l, the general or common fiber 78,4 g/l.
The biochemical analysis of a blood 01.02.05 - ALT 281 Nn/L, ACT 194 Nn/L, SHCHF 89 Nn/L, GGTP 55 Nn/L, triglycerides 0,86 ???y/l, a cholesterin 3,6 ???y/l, O-lipoproteins 4,0 g/l.
4. SGTT 7.00 - 5,1 ???y/l, 9.00 - 9,7 ???y/l from 30.01.05
5. The Blood on glikirovannyj a hemoglobin 04.02.05 - GHBA1 - 8,3 % (norm or rate of 6-8 %), GHBA1C - 6,9 % (norm or rate of 3-6 %).
6. The Blood on From 31.01.05 - 1,577 ng/ml (norm or rate 0,64-2,84).
7. The Blood on IRI 27.01.05 - 8.00 - 87 ??N/ml (norm or rate on an empty stomach 2,1-30,8 ??N/ml).
8. Glikemichesky a structure
8.00 12.00 16.00 20.00
27.01 5,8 6,2 11,5 7,1
31.01 5,9 3,9 6,6 5,6 ???y/l



9. The Hormonal status: FSG - 6,6 honey/ml; LG - 1,82 honey/ml; Oestradiolum - 75,42 u/ml; TTG - 3,031 honey/l; Prolactinum - 634 honey/l, Testosteron-Depotum - 0,72 ng/ml, 17- 1,76 ng/ml 27.01.05.
Hydrocortisone of a blood 27.01.05 - 8.00 - 890 ???y/l, 22.00 - 68 ???y/l (norm or rate 150-660 ???y/l).
10. Electrolytes 27.01.05 - a calcium - 2,51 ???y/l, phosphorus - 1,01 ???y/l, sodium - 141 ???y/l, a potassium - 6,8 ???y/l; 31.01 potassium - 4,2 ???y/l.
11. A blood on aHCV - otr, HssAg - otr. From 01.02.05.
12. Assay with Synacthenum-depot 08.02.05:
Initially 17- - 4,7 ng/ml; in 9 hours 17- - 10,3 ng/ml; in 24 hours 17- - 3,19 ng/ml (a follicular phase 0,1-0,8; ljuteinovaja a phase 0,6-2,3; an ovulation 0,3-1,4 ng/ml).
13. The General or Common analysis wet from 08.02.05 - ud. The weight 1008, fiber is not present, Saccharum is not present., rn neutral, L 1-3, ep. kl 3-5, erythrocytes 7-8 in sight.
14. The Analysis wet on nechiporenko from 04.02.05 - L 750, eg 0, tsil 0.
15. The Feces on eggs of helminths from 19.01.05 - are not found out.
16. An electrocardiogram from 31.01.05 - sinusovaja a tachycardia, the CARDIAC CONTRACTIONS RATE 100 in minutes Attributes SRRZH. Incomplete blockade of the right leg or pinch of a fascicle
17. Consultation of the neurologist from 31.01.05 - a syndrome tservikotorakalgii, ljumbalgii vertebrogennoj etiologies.
18. Consultation infektsionista from 08.02.05 - a fatty hepatosis.
19. Survey in the laser center 04.02.05 - eyeground OU: DZN usual color, contours precise, the course and calibre of vessels is not changed.
20. FLG OGP 49-50 19.01.05 - without a pathology.
21. US of adrenals from 27.01.05 - raised or increased ehogennosti, S 2,4x1,7 sm, D 2,1x1,1 see
22. US of a thyroid gland from 27.01.05 - contours rough, a locating typical, l/at
Are not increased, ehogennost lowered, ehostruktura is diffusive or diffusively-non-uniform, LD 3,8x1,7x1,9 sm, LS 3,7x1,7x1,9 sm; an isthmus of 0,5 sm; full amount 11,5 smz.
23. US of organs of a small basin from 27.01.05 - contours of a uterus equal, the body is rejected to the left, the sizes 6,6x3,6x1,9 sm, M-echo 0,6 see Length shejki uteruses 2,0 see Ovaries raised or increased ehogennosti, OD 2,6 h 1,8 h 1,8 sm; OS 2,8 h 1,8 h 1,7 see Follicles not lotsirujutsja.
24. US of organs of an abdominal cavity and kidneys 27.01.05
The liver - contours equal, precise, ehostruktura is changed, fine-grained, ehogennost is raised or increased, the bottom edge or territory is rounded off, acts from under edge or territory reb. Arches on 2,0 sm, KVR 14,2 sm, the right share of 11,4 sm, the left share 7,7 see the Vascular system is not changed. Focal educations are not present. Attributes of a portal hypertensia are not present. A cholic bubble - with dynamic strangulations in the top third, 7,6x2,7 see the Wall is condensed, utolshchena up to 0,4 see Contents non-uniform. Concrements are absent. Kidneys - RS 9,7x5,7x1,8 sm; RD 10,0x5,2x1,6 see the Locating usual, uroobstruktsii and stones are not present; CHLS nekompaktna from both parties or sides. A pancreas - contours rough, indistinct. The sizes 2,8x2,0x2,5 see the Structure or Frame is changed. Ehoplotnost it is diffusively-is non-uniformly strengthened. Virsungov a duct normal. Focal educations are not present. Lymph nodes in an abdominal cavity not lotsirujutsja. A lien - 8,5x3,0 see the Contour equal, precise. Structure or frame and ehoplotnost usual. Focal educations are not present.
25. Rentgenogrfija a thoracal department of a backbone in 2 projections 02.02.05 - a scoliosis of a thoracal department on the right with tsentratsiej arches on Th2, rotation of bodies nizhnegrudnyh vertebra or vertebrae to the left (Th8-Thll). The height of bodies of vertebra or vertebrae is not changed, lowered height of disks in a -thoracal department. Subchondral zones sklerozirovany. The conclusion: scoliosis I item to the right.
26. Roentgenography of a cervical department of a backbone with functional assays 02 02.05 - the scoliosis to the left I item with tsentratsiej arches on h4 is noted. The physiological lordosis is expressed enough. The moderate hypertrophy of top articulate or joint process SZ is defined or determined. Disk 2- is a little bit lowered on height. Bodies of vertebra or vertebrae save height. Instability of disks it is not revealed.
Consultation in structure of the regional children's endocrinologist, dots., to m n SHapkinoj L And, the regional endocrinologist, dots., k.m n Morozovoj And m
The conclusion: Partial ?Ou-DEFICIENCY. An obesity of III degree. Disturbance of tolerance to a glucose. A functional hypercorticoidism. A syndrome giperandrogenii. A secondary amenorrhea. A fatty hepatosis.
Convincing data for nonclassical variant VDKN now are not present Considering the syndromal diagnosis, the genetic pathology is not excluded.