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Parastoo Rostami, Maryam Nakhaeimoghadam, Faezeh-Moghimpour Bijani, Arya Sotoudeh, Ali Rabbani, Pascale Hilbert, Nima Rezaei
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is an autosomal recessive disorder, caused by mutation in the AGPAT2 gene, which could lead to insulin resistance and variety of complications. Herein, a 7-year old girl is presented with generalized loss of subcutaneous fat, prominent pectoral and thigh muscles and an early telarche. Laboratory studies revealed an elevated level of serum triglyceride. Ultrasonograph demonstrated enhanced size of ovary containing multiple mature follicles. Considering the clinical phenotype, AGPAT2 gene was sequenced which showed homozygote c...
February 2013: Annales D'endocrinologie
Tutku Soyer, Sebnem Ayva, Mine F Senyucel, Cagri Senyucel, Mustafa K Aslan, Murat Cakmak
Breast masses are very rare in infants and premature telarche due to excessive endogen or exogenous estrogens is the most common presentation during infancy. Myofibroblastoma is a stromal tumor of the breast, occurring especially in elder males. This breast mass has a close relationship between androgen receptors and has not been reported in infants previously. A 10-month old male baby with a left breast mass, which is diagnosed as myofibroblastoma, is discussed to evaluate the clinical features and treatment modalities of breast myofibroblastomas in children...
June 2012: Fetal and Pediatric Pathology
Hugo Amigo, Thais Costa Machado, Patricia Bustos
A compensatory effect of chronic malnutrition that influences excess of weight has been reported. This effect would be more evident in indigenous populations. The aim of this study was to find out the association between ethnic group (mapuche) and body composition in the telarche and menarche of indigenous and non indigenous adolescents. This was a cross sectional design. At the beginning, a screening of 10,121 girls from 168 schools in the Araucania Region, Chile was done. 230 adolescent in telarche (grade II of the development of the mammary gland): 112 indigenous and 118 non indigenous and 239 in menarche (113 indigenous and 126 non indigenous) were identified...
September 2009: Archivos Latinoamericanos de Nutrición
M Delvecchio, A De Bellis, D De Mattia, L Cavallo, B Martire
Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and T-lymphocytes dysfunction. Autoimmune diseases are frequent. A 10.7-yr-old female, diagnosed with CVID when 7 yr old, was referred because of short stature. She was pre-pubertal and short (height -2.86 SD score) with delayed bone age. Her intestinal absorption, routine biochemistry, heart, renal, liver, and thyroid functions were normal. Two stimulation tests for GH showed a maximum peak of 1.9 ng/ml (IGF-1: 154 ng/ml, 147-832)...
September 2009: Journal of Endocrinological Investigation
Anna Górska, Maria Gardziejczyk, Mirosława Urban
INTRODUCTION: A chronic autoimmune inflammatory process and a long-term steroid therapy seems to underlie growth inhibition in children suffering from juvenile systemic lupus erythematosus (JSLE). The study objective was to assess the effect of one-year GH therapy on the growth rate in a 17-year-old girl with JSLE diagnosed when she was 11. CASE DESCRIPTION: Growth rate slowdown was observed when the girl was eleven (up to the age of 10 the growth was harmonious--50 centile)...
2007: Pediatric Endocrinology, Diabetes, and Metabolism
Yanet R Málaga Correa, José María Tovar Rodríguez, Imelda Hernández Marín, Aquiles R Ayala
It is presented the case of a female with heterosexual precocious puberty associated to hyperandrogenism and virilization due to arrhenoblastoma, who became pregnant after surgery. Clinical study: a 14-year-old female initiated at age 6 years with premature pubarche and telarche. By age 11, the patient only had one menstrual period along with virilization. Physical exam disclosed: facial acne, cricoid enlargement, breast Tanner II, pubic hair Tanner III, clitoromegaly of 4.5 cm and hypotrophy of labia majora...
May 2004: Ginecología y Obstetricia de México
Marie-Laure Kottler, Adèle Hamel, Elodie Malville, Nicolas Richard
The acquisition of a sexually dimorphic phenotype is a critical event in mammalian development. Hypogonadotropic hypogonadism (HH) results from impaired secretion of GnRH. The patients display with delayed puberty, micropenis and cryptorchidism in the male reflecting gonadotropin insufficiency, and amenorrhea in the female. Kallmann's syndrome (KS) is defined by the association of HH and anosmia or hyposmia (absent smelling sense). Segregation analysis in familial cases has demonstrated diverse inheritance patterns, suggesting the existence of several genes regulating GnRH secretion...
2004: Journal de la Société de Biologie
A I Curcoy Barcenilla, V Trenchs Sáinz de la Maza, L Ibáñez Toda, F Rodríguez Hierro
BACKGROUND: Girls born small for gestational age (SGA), with a birth weight < 1.5 SDS, are at increased risk of early onset and rapid progression of puberty, with reduced final height. In contrast, idiopathic precocious pubarche (PP) does not seem have negative effects on the onset of puberty or final height. OBJECTIVE: We evaluated the relationship between birthweight, the onset and progression of puberty and final height in girls with PP. METHODS: We performed a retrospective study of girls at the onset of puberty with a history of PP (pubic hair before the age of 8 years)...
May 2004: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Hernán García, Ronald Youlton, Raquel Burrows, Andreína Catanni
The beginning of puberty is marked by breast growth in girls and testicular enlargement in boys. These occur at the age of 10.5 +/- 2.0 years in females and 11.5 +/- 2.0 years in males. Recent but controversial publications suggest that these events are being observed at younger ages, at least in the USA. There are no studies demonstrating that this is true in Chile. For this reason we still consider that puberty is precocious when it occurs before 8.0 years in girls and before 9.0 years in boys. True or central precocious puberty (CPP) must be distinguished from peripheral or pseudoprecocious puberty (PPP), from premature telarche and from premature adrenarche...
January 2003: Revista Médica de Chile
A Januszek-Trzciakowska, E Małecka-Tendera, J Lewin-Kowalik
Premature breast development (premature thelarche) is a common reason of referring prepubertal girls for endocrinological evaluation. It is considered as a benign condition but its pathogenesis is still unknown. It is postulated that it may be due to premature partial activation of hypothalamo-pituitary axis or to the increased sensitivity of breast tissue to normal, prepubertal estradiol levels. Although it rarely progresses to central precocious puberty the differential diagnostics is essential, as the latter pathology should be treated as early as possible...
2000: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
L Cavallo, R Gurrado
We investigated in Turner's syndrome patients whether the decrease in growth hormone (GH) secretion is frequent or sporadic, whether or not reduced GH secretion contributes to insufficient growth, and whether age, spontaneous presence of telarche and/or pubarche, karyotype and weight influence GH secretion decrease. We evaluated GH reserve in 301 patients by classical stimulation tests and in 68 of these patients mean nocturnal spontaneous secretion was also measured. Spontaneous telarche and/or pubarche were present in 33% of girls aged > 9 years...
September 1999: Journal of Pediatric Endocrinology & Metabolism: JPEM
W E Mangano, D E Renedo, W J Frable
Premature telarche is a condition of isolated unilateral or bilateral breast development without additional signs of sexual maturation in girls primarily under 2 yr of age presumably occurring as a response to hormonal stimulation by estrogens. Prior reports concerning pathologic findings in premature telarche have been scarce. We report the cytologic findings from a nipple discharge in a 10-mo-old girl with unilateral breast enlargement due to premature telarche. The discharge showed an increased number of clusters of breast ductal epithelium, with a few in a papillary configuration...
November 1998: Diagnostic Cytopathology
I M Monteiro, A J Bedone, C L Pinto, S R Brandalise
BACKGROUND: In order to evaluate the puberal development of girls treated by Acute Lymphocytic Leukaemia (ALL) a retrospective study was done at Campinas-SP, Brazil. MATERIAL AND METHODS: Forty two girls were treated by ALL with either 18 or 24 Grays of cranial irradiation. All patients were treated with chemotherapy including intrathecal methotrexate in similar dose regimens in either groups. RESULTS: The results showed lower mean ages at telarche, pubarche and menarche in the treated group, mainly in the group treated before five years old...
July 1998: Revista da Associação Médica Brasileira
M Malossi
In the introduction it is noted that, in the physiopathology, specific pathogenetic elements are missing concerning irritative stimulation, turbid fat pathosis, digital hippocratism of chronic affections (for example, pulmonary affections), the most frequent onset of telarche and of the swelling of the areola of the breast on the left hemithorax in the premenstrual syndrome, fibrosis, cyrrosis, certain types of insipid diabetes, etc. In the opinion of the author, the use of chloropromazine, in doses that have proved to be harmless, has contributed to the clearing up of some questions concerning a few pathologies of internal organs: the liver, the spleen, the brain-and enable us to pose some hypotheses about the swelling of the liver, the origin of scleroses and cirrhoses and some splenic and encephalic swellings...
May 1993: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
B Büyükgebiz, Y Eroğlu, A Büy ukgebiz
We studied a girl with phenylketonuria who demonstrated signs of precocious puberty. At the age of 7.5 years she had premature telarche. Her height age was 7-9/12 years and her bone age was 9 years. Gonadotropin responses to LHRH administration were consistent with central precocious puberty. Elevated serum phenylalanine levels in this patient, due to poor compliance with the phenylalanine restricted diet, may be related to the early onset of puberty.
October 1994: Journal of Pediatric Endocrinology
C Nappi, P Mastrantonio, F Mercorio, G Trezza, V Donofrio
Gonadoblastoma occurs almost entirely in patients with pure mixed gonadal dysgenesis or in male pseudohermaphrodites. A report of a patient with monolateral gonadoblastoma who sought consultation for primary amenorrhea is presented. Telarche and adrenarche occurred spontaneously at age 12. No signs of clitoromegaly or hirsutism were present. Endoscopic examination and biopsy specimens revealed absence of uterus, monolateral gonadoblastoma and controlateral teratoma in normally developed gonads. Serum gonadotrophins, estrogens and progesterone levels showed a biphasic secretion pattern...
1983: European Journal of Gynaecological Oncology
R Yturriaga
No abstract text is available yet for this article.
September 1983: Anales Españoles de Pediatría
L Buta, M Buta
The authors present a case of true precocious puberty in a 2 1/2-years-old female child, probably due to a neurogenic cause (sequela of a purulent meningitis). The girl showed telarche, pubarche, menarche and an advanced statural development. The diagnosis was confirmed by laboratory. On treatment with Depo Provera (medroxy-progesterone acetate long acting) 200 mg/day for 10 days i.m., the evolution was favourable (cessation of precocious menstra).
October 1992: Pediatrie
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