Results 31 to 40 of about 23,463 (198)

Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1 [PDF]

, 2002
DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the X chromosome, gene 11 is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis.
Gaillard, R.C., Schorderet, D., Schorderet, D, Jameson, J.L., Pralong, F.P., Gaillard, RC, Fiaux, M., Achermann, JC, Salvi, R, Achermann, J.C., Gomez, F, Fiaux, M, Pralong, FP, Jameson, JL, Salvi, R., Gomez, F.   +15 more
core   +1 more source

Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling [PDF]

, 2012
Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to progress normally through puberty. Mutations in the gene encoding the GnRH receptor (GNRHR1) result in CHH when present as compound heterozygous or ...
Newton, Claire, Young, Jacques, Claire L Newton, Millar, Robert, Guiochon-Mantel Anne, Young Jacques, Guiochon-Mantel, Anne, Millar, Robert P., Bouligand, Jerome, Newton Claire L., Millar, Robert P, Tello Javier A., Tello, Javier, Anne Guiochon-Mantel, Newton, Claire L, Tello, Javier A., Millar Robert P., Robert P Millar, Jerome Bouligand, Jacques Young, Bouligand Jerome, Tello, Javier A, Javier A Tello, Newton, Claire Louise, Tello, Javier; id_orcid   +24 more
core   +2 more sources

A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant

Clinical Case Reports, 2023
Key Clinical Message Empty sella syndrome is a complex syndrome with a diverse clinical presentation. The combination with functional hypogonadotropic hypogonadism is a real challenge for the clinician. Mutations in the CHD7 gene could be a possible, yet
Sava Petrov, Ekaterina Babadzhanova, Maria Orbetzova, Hristo Ivanov   +3 more
doaj   +1 more source

Improvement in semen parameters by switching steroids in a male congenital adrenal hyperplasia patient with severe oligozoospermia

Urology Case Reports, 2023
Congenital adrenal hyperplasia (CAH) causes hypogonadotropic hypogonadism due to the excessive production of adrenal androgens, which results in hypospermatogenesis in some male patients.
Atsushi Onishi, Keisuke Okada, Katsuya Sato, Yasuhiro Kaku, Koji Chiba, Masato Fujisawa   +5 more
doaj   +1 more source

Approach to the Patient With Hypogonadotropic Hypogonadism [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2013
Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either absent or inadequate hypothalamic GnRH secretion or failure of pituitary gonadotropin secretion.
Letícia Ferreira Gontijo, Silveira, Ana Claudia, Latronico   +1 more
openaire   +2 more sources

Cases of Hypogonadotropic Hypogonadism: A Single-Center Experience

, 2023
Background: Delayed puberty (DP) affects approximately 2% of adolescents. In most patients of both genders, delayed puberty is due to constitutional delay in growth and puberty (CDGP); it is a self-limiting condition starting later than usual during ...
HUSSEINI, ABBAS ALI, Yaşartekin, Y., DİRİCAN, ONUR, Ceylan, AHMET CEVDET, Buluş, A.D.   +4 more
core   +1 more source

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

JCRPE, 2021
Objective:Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system.
Asude Durmaz, Ayça Aykut, Tahir Atik, Samim Özen, Durdugül Ayyıldız Emecen, Aysun Ata, Esra Işık, Damla Gökşen, Özgür Çoğulu, Ferda Özkınay   +9 more
doaj   +1 more source

A Current Perspective on Delayed Puberty and Its Management

JCRPE
Delayed puberty is defined as the lack of development of secondary sex characteristics in childhood. Based on a review of the literature, delayed puberty can be divided into three main categories: (i) hypergonadotropic hypogonadism (congenital and ...
Ayhan Abacı, Özge Besci
doaj   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
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