Search
Search Results
-
Androgens and Women
Androgens play a pivotal role in women across the life span. Over the last years, there have been some advances in our understanding of the...
-
Aromatase Deficiency
Syndrome OMIM number: #613546
-
Variants of Sex Development
Variations (formerly “disorders”) of sex development (DSD) describe congenital conditions with atypical constellations between the chromosomal, the...
-
Ambiguous Genitalia
Ambiguous genitalia discovered in the delivery room can be a stressful situation for the parents and care providers. The differential diagnosis of...
-
(Neo) Vaginoplasty in Female Pelvic Congenital Anomalies
Congenital pelvic malformations are rare conditions characterized by specific common features resulting from an abnormal embryological development of...
-
Ovarian steroid cell tumor causing isosexual pseudoprecocious puberty in a young girl: an instructive case and literature review
BackgroundSteroid cell tumors (SCTs) are very rare sex cord-stromal tumors and account only for less than 0.1% of ovarian neoplasms. SCTs might...
-
Rare Forms of Congenital Adrenal Hyperplasia Affecting Electrolyte Homeostasis
Congenital adrenal hyperplasia (CAH) encompasses a group of monogenic and autosomal recessive diseases, with the most common form being...
-
Rare Forms of Congenital Adrenal Hyperplasia Affecting Electrolyte Homeostasis
Congenital adrenal hyperplasia (CAH) encompasses a group of monogenic and autosomal recessive diseases, with the most common form being...
-
(Neo) Vaginoplasty in Female Pelvic Congenital Anomalies
Congenital pelvic malformations are rare conditions characterized by specific common features resulting from an abnormal embryological development of...
-
Treatment of Hypogonadism of Hypothalamic or Pituitary Origin
There are different options available for treatment of males with central hypogonadism (i.e., with hypogonadism of either hypothalamic or pituitary...
-
Congenital Adrenal Hyperplasia in the Adolescent
Congenital adrenal hyperplasia (CAH) is a primary adrenal insufficiency and an autosomal recessive disorder that ranges in clinical severity from a...
-
Disorders or Differences of Sex Development
Disorders or Differences of sex development (DSD) refer to a diverse group of conditions in which chromosomal, gonadal, or anatomic sex development...
-
Management of Infants with Congenital Adrenal Hyperplasia
Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manage associated...
-
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center
The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of...
-
Laparoscopy versus ultrasonography for the evaluation of Müllerian duct remnants in male patients with disorder of sex differentiation
BackgroundThe diagnosis of male differences of sex development is a challenging multidisciplinary team task, that requires external genital...
-
The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to...
-
A review of the essential concepts in diagnosis, therapy, and gender assignment in disorders of sexual development
BackgroundThe aim of this article is to review the essential concepts, current terminologies and classification, management guidelines and the...
-
Diseases of the Adrenal Gland
The adrenal gland is a paired organ that is located on the upper pole of both kidneys.
-
Kallmann Syndrome (Type 1 and 2)
OMIM: # 308700, #147950