1/16. endocrinology teaching rounds: primary amenorrhea in a 17-year-old woman.This endocrinology teaching rounds documents the evaluation of a 17.7-year-old woman with primary amenorrhea. The normal timing of developmental milestones for young women from adrenarche and pubarche through pubertal maturation and growth is reviewed, as are etiologies for amenorrhea. The differential diagnosis of the problem is developed from the patient's initial visit to diagnosis and treatment. The highlights of the management of this young woman after a diagnosis of craniopharyngioma are also discussed. This clinical case emphasizes the importance of understanding normal developmental landmarks and of detecting aberrant physiology-associated amenorrhea even when screening laboratory tests appear normal so that defects in normal development can be addressed earlier in life.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
2/16. growth hormone deficiency in one of two siblings with Fanconi's anaemia complementation group FA-D.Fanconi's anaemia (FA) shows great variability in phenotypic symptoms. We report on two FA siblings of German ancestry with the very rare form of the complementation group FA-D. Both presented with a similar phenotype and mild disease severity but with different growth. In the sister, growth velocity was normal, puberty and menarche occurred spontaneously. Her final height was within her parental target height. The younger brother had a reduced growth velocity, height SDS values below -5.5 SDS, a markedly retarded bone age, and delayed puberty. At the age of 12.9 years, growth hormone deficiency (GHD) was diagnosed and treatment with growth hormone was initiated. Our cases emphasize the heterogeneity of symptoms in FA even in siblings with the same genotype. In FA-children with severe growth retardation, GHD must also be considered.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
3/16. Autoimmune polyglandular endocrinopathy and anterior hypophysitis in a 14 year-old girl presenting with delayed puberty.We report a 14 year-old peripubertal girl who presented at our clinic with the primary complaint of delayed puberty. She was asymptomatic except for vague complaints of fatigue. physical examination was significant for mucosal hyperpigmentation and lack of secondary sexual characteristics. Laboratory evaluation revealed a morning cortisol concentration of <0.1 microg/dl (normal range [n.r.]: 4.3-22.4 microg/dl) and a simultaneous ACTH concentration of 2 pg/ml (n.r. 25-62 pg/ml); FSH 66.8 IU/l (n.r. for age: 1-12.8 IU/l); LH 41.1 IU/l (n.r. for age: 1-12 IU/l); E2 38 pg/ml (n.r. for age: 7-60 pg/ml). She had a flat cortisol response to an ACTH stimulation test. MRI of the pituitary gland failed to reveal a lesion. plasma renin activity, thyroid function tests, parathyroid hormone, prolactin, IGF-I, IGFBP-3 concentrations and serum electrolytes were normal. However, her urinary sodium concentration was high. She was diagnosed with autoimmune polyglandular endocrinopathy including ovarian failure, adrenal failure and autoimmune anterior hypophysitis presenting as isolated ACTH deficiency. We emphasize that autoimmune etiology should be considered in the differential diagnosis of delayed puberty and ovarian failure and that the presence of other endocrinopathies should be searched for even in asymptomatic patients.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
4/16. x chromosome-linked kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. The gene underlying the x chromosome-linked form of the disease, KAL-1, consists of 14 coding exons. It encodes a glycoprotein, anosmin-1, which is involved in the embryonic migration of GnRH-synthesizing neurons and the differentiation of the olfactory bulbs. We describe herein the clinical heterogeneity in three affected brothers who carry a large deletion (exons 3-13) in KAL-1. All three had a history of hypogonadotropic hypogonadism with delayed puberty. Although brain magnetic resonance imaging showed hypoplastic olfactory bulbs in the three siblings, variable degrees of anosmia/hyposmia were shown by olfactometry. In addition, these brothers had different phenotypic anomalies, i.e. unilateral renal aplasia (siblings B and C), high-arched palate (sibling A), brachymetacarpia (sibling A), mirror movements (siblings A and B), and abnormal eye movements (sibling C). Last but not least, sibling A suffered from a severe congenital hearing impairment, a feature that had been reported in KS but had not yet been ascribed unambiguously to the X-linked form of the disease. The variable phenotype, both qualitatively and quantitatively, in this family further emphasizes the role of putative modifier genes, and/or epigenetic factors, in the expressivity of the X-linked KS.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
5/16. Autosomal dominant insulin resistance syndrome due to postbinding defect.We investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and later overt insulin-resistant diabetes mellitus (non-insulin-dependent diabetes mellitus, NIDDM). The patients have markedly curly scalp hair, deficient face and body hair. Their teeth were healthy and normal in size and position. The clinical and biochemical findings and characteristics of the insulin receptors investigated in fibroblasts are reported. There was normal insulin binding to fibroblasts in the 2 brothers and their father. However, insulin-stimulated rna synthesis was decreased as compared to that of normal control individuals. These findings suggest a postbinding defect of insulin action. The pedigree documents an autosomal dominant mode of inheritance. The diagnosis is of practical importance since it enables medical supervision of gene carriers in a preclinical state of atherosclerotic complications and overt diabetes. The findings in this family have relevance also to the explanation of familial mild mental retardation and to the study of different forms of insulin resistance due to a disturbance in biosignal transfer.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
6/16. Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.We describe a 3-generation family in which mother, maternal grandfather, and 2 (male and female) children have variably manifestations of the ulnar-mammary syndrome, including ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands, and a previously undescribed ectopia of upper canines. The index patient also had split-hand appearance on the right due to complete absence of the 4th ray. To our knowledge this is the first documented example of split hand in the ulnar-mammary syndrome. The hand anomaly raises the question of a possible causal relationship between ulnar-mammary syndrome and the split hand with aplasia of the ulna syndrome, as already hypothesized by Lenz [1980].- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
7/16. Multiple pituitary hormone deficiency (MPHD) associated with normal height, absent puberty and obesity.We present a 22-year old girl with MPHD and a normal pituitary imaging (MRI) who grew to normal size without GH. She was very obese. At age 19 years replacement therapy with hydrocortisone, L-thyroxine and sex steroids was started. Despite severe growth hormone deficiency according to the provocative tests and decreased IGF I level our patient grew normally. On follow up at age 22 she is 174cm tall.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
8/16. Relationship between chronic raised intracranial pressure and empty sella presenting hormonal disturbances.The role of intracranial pressure in the development and maintenance of the primary empty sella has been pointed out in the literature previously. The hormonal changes and clinical features have been evaluated in a 30 year-old female patient examined for a convexity meningioma and a 20 year-old patient examined for chronic hydrocephalus caused by cured meningitis. Histories and investigations revealed an empty sella turcica associated with primary amenorrhoea and delayed puberty. The removal of the convexity meningioma resulted in loss of amenorrhoea and a rise in plasma gonadotrophins. The establishment of a ventriculo-peritoneal shunt did not bring about any changes in hormonal values and clinical features except the subjective headache disappeared. The importance of consideration of intracranial causes in patients who have delayed puberty or absence of menstrual history is briefly emphasized in light of the literature. Our data also demonstrated a correlation between an increase in intracranial pressure and a deficiency of hormonal secretion by the hypophysis.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
9/16. Evolution of polycystic ovaries in a girl with delayed menarche. A case report.A 17-year-old girl had delayed growth secondary to low birth weight. Although she entered puberty at 12.5 years, she had delayed menarche. She underwent serial ovarian ultrasound scans, and a change in ovarian morphology was observed, from a normal multicystic appearance to one typical of polycystic ovaries (PCOs). We hypothesize that normal ovarian morphology may change to PCOs during the peripubertal period because of a change in the endocrine milieu.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
10/16. Clinical diagnosis of disorders of puberty.The authors emphasize the orderly sequence of events (consonance) characteristic of normal puberty. Loss of consonance of normal puberty indicates an underlying endocrine disorder.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
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