A Man With Severe Defect in Sperm and Testosterone Production, Gets Twins

choi

Ji Hyun Lee, Out of a Struggle With Infertility, Success; For Ariella Perlman and Robert Johnson, persistence and patience pay off. New York Times, Mar 8 (Vows: State of the Union”)
www.nytimes.com/2015/03/08/fashi ... tility-success.html
("they were married in June 2009”--this is an update to their marriage)

My comment:
(a) "And everyone knew of Ariella Perlman, also now 31, because of her famous violinist father, Itzhak Perlman."

Itzhak Perlman
en.wikipedia.org/wiki/Itzhak_Perlman
(born in Tel Aviv in 1945)
(b) "'I said, "This is what’s wrong with me," ' Mr Johnson recalled telling Ms Perlman of his diagnosis of Kallmann syndrome, a hormonal disorder that caused delayed puberty and infertility. 'When I was a teenager, I was on testosterone therapy, every day, 365 days a year. The doctor had told me at age 13: "You’re sterile. Forget about it." ' "

(c) If you do not understand (c) to (e), it is all right. One may need a biology PhD to understand them.

Kallmann syndrome. Genetics Home Reference (GHR), National Library of Medicine (NLM), undated
ghr.nlm.nih.gov/condition/kallmann-syndrome

Quote:

“Researchers have identified four forms of Kallmann syndrome, designated types 1 through 4, which are distinguished by their genetic cause.

“Mutations in the KAL1, FGFR1, PROKR2, and PROK2 genes cause Kallmann syndrome. KAL1 mutations are responsible for Kallmann syndrome 1. Kallmann syndrome 2 results from mutations in theFGFR1 gene. Mutations in the PROKR2 and PROK2 genes cause Kallmann syndrome types 3 and 4, respectively.

“Kallmann syndrome 1 (caused by KAL1 mutations) has an X-linked recessive pattern of inheritance. TheKAL1 gene is located on the X chromosome

* KAL1 = Kallmann syndrome 1, a gene that [provides instruction for a [secreted] protein called anosmin-1”
* FGFR1 = fibroblast growth receptor receptor 1 (a receptor tyrosine kinase)
* PROKR2 = prokineticin receptor 2 (a G protein-coupled receptor)
* PROK2 = prokineticin 2 (encoding a secreted protein of the same name as the gene)

(d) Dodé C et al, Loss-of-Function Mutations in FGFR1 Cause Autosomal Dominant Kallmann Syndrome. Nat Genet (2003) 33: 463-5.
www.ncbi.nlm.nih.gov/pubmed/12627230
(e) Kallmann Syndrome. National Organization for Rare Disorders, Inc (NORD), undated
www.rarediseases.org/rare-diseas ... ID/848/viewAbstract
("During the fetal period, these GnRH neurons originate in the olfactory placode (ie the early developing nose); then migrate along the fetal olfactory (smell-related) neurons that also originate in the nose; and eventually enter the brain ultimately wending their way to the hypothalamus, their ultimate residence during early gestation")
(f) “When his sperm count reached 22, his Houston-based fertility team decided that this was the magic number to begin IVF treatment”

I do not know why “22” is said to be a magic number. A single sperm is needed in
intracytoplasmic Sperm Injection (ICSI)
en.wikipedia.org/wiki/Intracytoplasmic_sperm_injection
(view the photo only)
(g) A decade ago, a mother wrote in Chinese at Sex board of Mitbbs.com, lamenting his son whose testes can not be found (possibly left in the abdomen unable to descend, where higher temperature kills sperms but will not affect testosterone production). I said no problem, hormone replacement would help him behave like a man, though unable to reproduce. But she was distraught about the latter aspect.