Literature DB >> 9709728

Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.

K B Kaiserman1, J M Nakamoto, M E Geffner, E R McCabe.   

Abstract

An infant and his uncle, both with adrenal hypoplasia congenita, shared the same DAX1 mutation. The adolescent uncle had hypogonadotropic hypogonadism, but the infant had a normal minipuberty of infancy. These observations suggest differences in the physiologic mechanisms regulating the hypothalamic-pituitary-gonadal axis in infancy and adolescence.

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Year:  1998        PMID： 9709728     DOI： 10.1016/s0022-3476(98)70242-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  9 in total

Review 1.  Minipuberty in Klinefelter syndrome: Current status and future directions.

Authors:  Lise Aksglaede; Shanlee M Davis; Judith L Ross; Anders Juul
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-06-01       Impact factor: 3.908

Review 2.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

3.  Prospective investigation of anterior pituitary function in the acute phase and 12 months after pediatric traumatic brain injury.

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Journal:  Childs Nerv Syst       Date:  2013-12-10       Impact factor: 1.475

4.  X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: report on new mutation of the DAX-1 gene in two siblings.

Authors:  V Calvari; M G Alpigiani; E Poggi; B Podesta; G Camerino; R Lorini
Journal:  J Endocrinol Invest       Date:  2006-01       Impact factor: 4.256

5.  Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.

Authors:  Caroline Galeotti; Zineb Lahlou; Domitille Goullon; Hélène Sarda-Thibault; Juliette Cahen-Varsaux; Joëlle Bignon-Topalovic; Anu Bashamboo; Ken McElreavey; Raja Brauner
Journal:  PLoS One       Date:  2012-06-27       Impact factor: 3.240

6.  Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants.

Authors:  Jordan Teoli; Vincent Mezzarobba; Lucie Renault; Delphine Mallet; Hervé Lejeune; Pierre Chatelain; Frédérique Tixier; Marc Nicolino; Noël Peretti; Sandrine Giscard D'estaing; Béatrice Cuzin; Frédérique Dijoud; Florence Roucher-Boulez; Ingrid Plotton
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-30       Impact factor: 5.555

7.  Minipuberty of human infancy - A window of opportunity to evaluate hypogonadism and differences of sex development?

Authors:  Christoffer Højrup Renault; Lise Aksglaede; Ditte Wøjdemann; Anna Berg Hansen; Rikke Beck Jensen; Anders Juul
Journal:  Ann Pediatr Endocrinol Metab       Date:  2020-06-30

Review 8.  Ontogeny of Hypothalamus-Pituitary Gonadal Axis and Minipuberty: An Ongoing Debate?

Authors:  Carla Bizzarri; Marco Cappa
Journal:  Front Endocrinol (Lausanne)       Date:  2020-04-07       Impact factor: 5.555

9.  Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita.

Authors:  Han Saem Choi; Ahreum Kwon; Hyun Wook Chae; Junghwan Suh; Kyung Chul Song; Jin-Sung Lee; Ho-Seong Kim
Journal:  Ann Pediatr Endocrinol Metab       Date:  2021-06-30
  9 in total

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