Results 51 to 60 of about 31,437 (284)

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

The role of urinary LH and FSH in the diagnosis of pubertal disorders

Indian Journal of Endocrinology and Metabolism, 2021
Background: Various hormonal parameters used to differentiate between different causes of pubertal disorders are invasive, cumbersome, and has variable sensitivity and specificity.
Manoranjan Tripathy, A K Baliarsinha, A K Choudhury, Upendra K Das   +3 more
doaj   +1 more source

A rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiency [PDF]

, 2021
Aim 17 alpha-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex ...
Beştaş, Aslı, Aktar Karakaya, Amine, Bestas, Asli, Bolu, Semih, Unal, Edip, Eroz, Recep, Tekin, Mehmet, Haspolat, Yusuf Kenan, Karakaya, Amine Aktar   +8 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series

Journal of the Pakistan Medical Association
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as “Neurofibromin”, which acts as an inhibitor of oncogene RAS. This
Versha Rani Rai, Heeranand Rathore, Manisha Kumari, Mohsina Noor Ibrahim, Maira Riaz, Roshia Parveen   +5 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Comparing Pituitary MRI Findings in Patients with Thalassemia with and without Delayed Puberty

مجله دانشکده پزشکی اصفهان, 2011
Background: β-thalassemia major is among the most common genetic disorders in Iran. Blood transfusion, as the main stem of management of these patients, has numerous side effects including iron overload.
Atoosa Adibi, Ali Hekmatnia, Maryam Moradi, Ali Asghar Rahmani, Mohammad Hassan Moaddab   +4 more
doaj  

Comparative Analysis of Violations of Physical and Sexual Development in Children and Adolescents (Boys) with Various Mass Lesions of the Hypothalamic-Pituitary Region

Mìžnarodnij Endokrinologìčnij Žurnal, 2013
In this paper, the authors analyze the results of the survey 29 adolescent boys with different mass lesions of the hypothalamic-pituitary region. It is established a variety of disorders of growth and development, such as growth retardation (20.6 ...
Yu.M. Urmanova, U.Kh. Mavlonov
doaj   +1 more source

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings

Endocrinology, Diabetes & Metabolism Case Reports, 2020
Hypogonadotropic hypogonadism is characterised by insufficient secretion of pituitary gonadotropins resulting in delayed puberty, anovulation and azoospermia. When hypogonadotropic hypogonadism occurs in the absence of structural or functional lesions of
Satyanarayana V Sagi, Hareesh Joshi, Emily Whiles, Mondy Hikmat, Vijith R Puthi, Jane MacDougall, Sarah L Spiden, Gavin Fuller, Soo-Mi Park, Samson O Oyibo   +9 more
doaj   +1 more source

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

, 2019
BACKGROUND: Hypogonadotropic hypogonadism (HH) is a rare disorder that manifests absent puberty and infertility. Genetic syndromes with hypogonadism, such as Klinefelter syndrome, are associated with an increased risk of neurodevelopmental disorders ...
Vide Ohlsson Gotby, Almqvist, Catarina,, Serlachius, Eva,, Henrik Larsson, Ohlsson Gotby, Vide,, Frisén, Louise,, Larsson, Henrik,, Catarina Almqvist, Paul Lichtenstein, Louise Frisén, Tammimies, Kristiina,, Eva Serlachius, Kristiina Tammimies, Lichtenstein, Paul,, Sven Bölte, Bölte, Sven,, Olle Söder, Söder, Olle,   +17 more
core   +1 more source